SPTA1
spectrin alpha, erythrocytic 1
Summary
This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017]
Known Variants912 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1649201828 | 1:158,580,545 | C/A | — | uncertain significance |
| rs1197068796 | 1:158,580,634 | A/T | — | uncertain significance |
| rs549664412 | 1:158,580,667 | A/G | — | conflicting classifications of pathogenicity |
| rs976671141 | 1:158,580,675 | C/T | — | uncertain significance |
| rs867313542 | 1:158,580,713 | A/C | — | uncertain significance |
| rs867404163 | 1:158,580,731 | A/G | — | uncertain significance |
| rs561434223 | 1:158,580,735 | G/A | — | uncertain significance |
| rs886045377 | 1:158,580,758 | C/A | — | uncertain significance |
| rs12601 | 1:158,580,759 | G/A | — | benign |
| rs886045378 | 1:158,580,760 | T/C | — | uncertain significance |
| rs12128275 | 1:158,580,778 | G/A | — | benign |
| rs3768535 | 1:158,580,887 | T/C | — | benign |
| rs866529035 | 1:158,580,920 | A/C | — | uncertain significance |
| rs868674912 | 1:158,580,921 | G/A | — | uncertain significance |
| rs186892978 | 1:158,580,986 | G/C | — | conflicting classifications of pathogenicity |
| rs202171095 | 1:158,581,015 | C/T | — | uncertain significance |
| rs1229076536 | 1:158,581,064 | A/G | — | uncertain significance |
| rs776797243 | 1:158,581,073 | T/C | — | uncertain significance |
| rs376198878 | 1:158,581,077 | T/A | — | uncertain significance |
| rs750904139 | 1:158,581,086 | C/T | — | uncertain significance |
| rs1442688061 | 1:158,581,113 | G/A | — | likely pathogenic |
| rs774112593 | 1:158,581,116 | C/A | — | uncertain significance |
| rs576803383 | 1:158,581,125 | C/T | — | conflicting classifications of pathogenicity |
| rs144692310 | 1:158,581,131 | A/G | — | conflicting classifications of pathogenicity |
| rs773923538 | 1:158,581,134 | G/A | — | uncertain significance |
| rs2526152510 | 1:158,581,152 | A/G | — | uncertain significance |
| rs2526152821 | 1:158,581,175 | A/G | — | uncertain significance |
| rs2526152900 | 1:158,581,179 | C/T | — | uncertain significance |
| rs2526152917 | 1:158,581,180 | C/A | — | likely pathogenic |
| rs374324802 | 1:158,581,182 | G/A | — | uncertain significance |
| rs57511663 | 1:158,581,510 | T/C | — | benign |
| rs200452185 | 1:158,581,610 | G/C | — | — |
| rs2518489 | 1:158,582,426 | G/A | intron variant | — |
| rs2251963 | 1:158,582,543 | G/A | intron variant | — |
| rs2251964 | 1:158,582,552 | G/A | intron variant | — |
| rs1170758603 | 1:158,582,605 | A/C | — | conflicting classifications of pathogenicity |
| rs1064795113 | 1:158,582,609 | G/A | stop gained | pathogenic |
| rs2526164616 | 1:158,582,614 | A/C | — | uncertain significance |
| rs1183548010 | 1:158,582,620 | T/G | — | uncertain significance |
| rs112884419 | 1:158,582,637 | C/A | — | conflicting classifications of pathogenicity |
| rs2251969 | 1:158,582,646 | T/C | — | benign |
| rs2526165145 | 1:158,582,650 | A/G | — | uncertain significance |
| rs553564097 | 1:158,582,652 | G/A | — | benign |
| rs1557917325 | 1:158,582,669 | C/T | — | uncertain significance |
| rs1649346710 | 1:158,582,670 | T/C | — | uncertain significance |
| rs2526165445 | 1:158,582,672 | T/C | — | uncertain significance |
| rs78598639 | 1:158,582,673 | T/G | — | conflicting classifications of pathogenicity |
| rs2526166186 | 1:158,582,725 | T/C | — | uncertain significance |
| rs772489151 | 1:158,582,733 | C/T | — | likely benign |
| rs1172408575 | 1:158,582,743 | T/C | — | uncertain significance |
| rs747391167 | 1:158,582,750 | T/C | — | uncertain significance |
| rs1185409461 | 1:158,583,503 | G/T | — | uncertain significance |
| rs2526170746 | 1:158,583,511 | C/T | — | uncertain significance |
| rs774470901 | 1:158,583,517 | G/A | — | uncertain significance |
| rs1472406241 | 1:158,583,526 | G/A | — | uncertain significance |
| rs546017094 | 1:158,583,560 | C/T | — | benign |
| rs544393581 | 1:158,583,575 | T/C | — | uncertain significance |
| rs201514157 | 1:158,583,604 | C/A | — | uncertain significance |
| rs375016862 | 1:158,583,611 | G/A | — | conflicting classifications of pathogenicity |
| rs759075251 | 1:158,583,631 | C/T | — | conflicting classifications of pathogenicity |
| rs553043635 | 1:158,583,632 | G/A | — | uncertain significance |
| rs1557918174 | 1:158,583,640 | A/G | — | uncertain significance |
| rs374589766 | 1:158,583,649 | T/C | — | uncertain significance |
| rs138732899 | 1:158,583,650 | C/T | — | conflicting classifications of pathogenicity |
| rs766464890 | 1:158,583,665 | A/G | — | uncertain significance |
| rs916161149 | 1:158,584,068 | G/T | — | uncertain significance |
| rs952094 | 1:158,584,091 | A/G | missense variant | benign |
| rs776369355 | 1:158,584,116 | C/A | — | likely benign |
| rs72698798 | 1:158,584,410 | G/A | — | benign |
| rs2518490 | 1:158,584,675 | A/G | intron variant | — |
| rs779537034 | 1:158,584,995 | G/A | — | pathogenic |
| rs2526183021 | 1:158,585,005 | C/T | — | pathogenic |
| rs1571370675 | 1:158,585,021 | T/C | — | uncertain significance |
| rs372533502 | 1:158,585,042 | C/T | — | uncertain significance |
| rs2526183559 | 1:158,585,045 | A/T | — | likely pathogenic |
| rs1649486162 | 1:158,585,080 | C/A | — | uncertain significance |
| rs938417743 | 1:158,585,084 | C/T | — | uncertain significance |
| rs369894033 | 1:158,585,093 | C/T | — | uncertain significance |
| rs1649487063 | 1:158,585,097 | A/G | — | uncertain significance |
| rs369323191 | 1:158,585,105 | T/C | — | uncertain significance |
| rs142775522 | 1:158,585,122 | T/G | — | likely benign |
| rs374751703 | 1:158,585,138 | A/G | — | uncertain significance |
| rs1571371125 | 1:158,585,160 | G/A | — | uncertain significance |
| rs751062593 | 1:158,585,162 | C/T | — | conflicting classifications of pathogenicity |
| rs773800556 | 1:158,585,163 | G/A | — | conflicting classifications of pathogenicity |
| rs1206486118 | 1:158,585,173 | C/T | — | uncertain significance |
| rs79592002 | 1:158,585,185 | C/A | — | uncertain significance |
| rs753769799 | 1:158,585,203 | C/T | — | conflicting classifications of pathogenicity |
| rs2779116 | 1:158,585,415 | C/T | intron variant | — |
| rs2852635 | 1:158,586,277 | G/A | intron variant | — |
| rs1462060431 | 1:158,587,322 | C/A | — | likely pathogenic |
| rs1649630994 | 1:158,587,333 | T/C | — | likely benign |
| rs1649631120 | 1:158,587,335 | C/T | — | uncertain significance |
| rs111980420 | 1:158,587,368 | T/C | — | likely benign |
| rs1252768130 | 1:158,587,370 | A/G | — | uncertain significance |
| rs199640503 | 1:158,587,382 | G/C | — | uncertain significance |
| rs857716 | 1:158,587,390 | C/T | — | likely benign |
| rs528503195 | 1:158,587,391 | C/T | — | uncertain significance |
| rs200871384 | 1:158,587,392 | G/A | — | likely benign |
| rs41273515 | 1:158,587,400 | T/G | — | benign |
Showing 100 of 912 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.