HSPB7
heat shock protein family B (small) member 7
Summary
This gene encodes a small heat shock family B member that can heterodimerize with similar heat shock proteins. Defects in this gene are associated with advanced heart failure. In addition, the encoded protein may be a tumor suppressor in the p53 pathway, with defects in this gene being associated with renal cell carcinoma. [provided by RefSeq, Mar 2017]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1048302 | 1:16,340,879 | T/C | — | — |
| rs1048261 | 1:16,340,951 | A/T | upstream gene variant | — |
| rs1048238 | 1:16,341,649 | C/G | — | — |
| rs1048237 | 1:16,341,733 | T/A | — | — |
| rs752889799 | 1:16,342,094 | C/T | — | uncertain significance |
| rs758535730 | 1:16,342,095 | G/A | — | uncertain significance |
| rs146609918 | 1:16,342,124 | G/A | — | uncertain significance |
| rs373135452 | 1:16,342,130 | C/T | — | uncertain significance |
| rs764260228 | 1:16,342,140 | G/A | — | uncertain significance |
| rs530970423 | 1:16,342,146 | T/C | — | likely benign |
| rs11807575 | 1:16,342,201 | C/T | — | benign |
| rs199601455 | 1:16,342,220 | G/A | — | uncertain significance |
| rs779785456 | 1:16,342,224 | A/G | — | uncertain significance |
| rs771587197 | 1:16,342,236 | C/T | — | uncertain significance |
| rs1739843 | 1:16,343,254 | T/C | upstream gene variant | — |
| rs1412332304 | 1:16,343,577 | C/T | — | uncertain significance |
| rs765038472 | 1:16,343,580 | G/A | — | uncertain significance |
| rs1192545737 | 1:16,343,648 | G/A | — | uncertain significance |
| rs145856313 | 1:16,344,307 | T/C | — | benign |
| rs143636240 | 1:16,344,308 | C/T | — | benign |
| rs1386044244 | 1:16,344,325 | A/G | — | uncertain significance |
| rs372453507 | 1:16,344,343 | G/A | — | uncertain significance |
| rs1265729239 | 1:16,344,358 | A/G | — | uncertain significance |
| rs201662352 | 1:16,344,373 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.