SMARCAD1
SNF2 related chromatin remodeling ATPase with DExD box 1
Summary
This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Known Variants73 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2276910 | 4:95,129,238 | T/C | — | benign |
| rs200143335 | 4:95,129,558 | A/G | — | uncertain significance |
| rs746504711 | 4:95,129,582 | A/G | — | uncertain significance |
| rs766417188 | 4:95,129,634 | C/G | — | uncertain significance |
| rs374058320 | 4:95,129,657 | C/G | — | uncertain significance |
| rs1741634059 | 4:95,129,687 | G/A | — | uncertain significance |
| rs183993 | 4:95,130,025 | G/A | — | benign |
| rs11943926 | 4:95,136,512 | G/A | intron variant | — |
| rs11097407 | 4:95,146,135 | G/C | intron variant | — |
| rs2632401 | 4:95,147,055 | C/G | — | benign |
| rs200948051 | 4:95,147,383 | G/A | — | conflicting classifications of pathogenicity |
| rs749379015 | 4:95,147,398 | T/C | — | uncertain significance |
| rs199979749 | 4:95,147,402 | A/G | — | likely benign |
| rs72665660 | 4:95,147,553 | C/T | — | benign |
| rs3106136 | 4:95,153,349 | T/C | intron variant | — |
| rs2530370352 | 4:95,155,121 | G/A | — | uncertain significance |
| rs149019191 | 4:95,155,148 | A/G | — | benign |
| rs925409123 | 4:95,155,187 | C/G | — | uncertain significance |
| rs138441912 | 4:95,158,159 | T/C | — | likely benign |
| rs2306803 | 4:95,161,996 | C/T | — | benign |
| rs1420750749 | 4:95,162,102 | A/G | — | uncertain significance |
| rs12511433 | 4:95,162,425 | G/A | — | benign |
| rs11722476 | 4:95,170,839 | G/A | — | benign |
| rs372341021 | 4:95,173,770 | T/C | — | uncertain significance |
| rs7439869 | 4:95,173,779 | C/T | — | benign |
| rs769704087 | 4:95,173,785 | A/C | — | uncertain significance |
| rs61750822 | 4:95,173,810 | A/G | — | likely benign |
| rs559885724 | 4:95,173,820 | A/G | — | uncertain significance |
| rs150825146 | 4:95,173,848 | C/G | — | uncertain significance |
| rs201412452 | 4:95,173,877 | A/G | — | uncertain significance |
| rs2530608070 | 4:95,173,913 | A/G | — | uncertain significance |
| rs139839410 | 4:95,173,928 | C/T | — | benign |
| rs145303992 | 4:95,173,931 | A/G | — | uncertain significance |
| rs760237788 | 4:95,173,941 | T/C | — | uncertain significance |
| rs1442960844 | 4:95,173,956 | A/G | — | uncertain significance |
| rs1749491828 | 4:95,174,006 | G/A | — | uncertain significance |
| rs1749496214 | 4:95,174,033 | A/G | — | uncertain significance |
| rs199743897 | 4:95,174,069 | A/G | — | uncertain significance |
| rs1317084270 | 4:95,174,072 | G/A | — | uncertain significance |
| rs1057519613 | 4:95,174,823 | G/T | — | pathogenic |
| rs1114167276 | 4:95,174,824 | T/C | — | pathogenic |
| rs895436485 | 4:95,174,825 | A/T | — | pathogenic |
| rs1114167277 | 4:95,174,827 | G/C | — | pathogenic |
| rs10029551 | 4:95,185,854 | A/G | — | benign |
| rs35489656 | 4:95,185,861 | A/G | — | uncertain significance |
| rs2306802 | 4:95,186,055 | G/A | — | benign |
| rs2530803520 | 4:95,191,941 | G/A | — | uncertain significance |
| rs1418392203 | 4:95,196,037 | C/A | — | uncertain significance |
| rs763264827 | 4:95,197,503 | A/G | — | uncertain significance |
| rs6823404 | 4:95,197,520 | C/T | — | benign |
| rs61762662 | 4:95,198,229 | C/G | — | benign |
| rs150247319 | 4:95,198,235 | G/A | — | likely benign |
| rs35670996 | 4:95,199,479 | C/G | — | benign |
| rs138860144 | 4:95,199,785 | C/G | — | likely benign |
| rs142593051 | 4:95,199,855 | A/G | — | uncertain significance |
| rs975789003 | 4:95,200,152 | A/G | — | uncertain significance |
| rs77210576 | 4:95,200,987 | T/C | intron variant | — |
| rs775036233 | 4:95,201,868 | C/G | — | uncertain significance |
| rs1753894795 | 4:95,201,881 | T/A | — | uncertain significance |
| rs756693746 | 4:95,201,924 | A/G | — | uncertain significance |
| rs76855076 | 4:95,202,375 | G/C | — | benign |
| rs35361491 | 4:95,202,492 | G/A | — | benign |
| rs145680198 | 4:95,202,640 | A/G | — | benign |
| rs1450182385 | 4:95,202,693 | A/T | — | uncertain significance |
| rs756107825 | 4:95,204,307 | A/G | — | uncertain significance |
| rs1470388284 | 4:95,204,311 | C/T | — | likely benign |
| rs759461767 | 4:95,204,386 | C/T | — | likely benign |
| rs150777961 | 4:95,204,450 | A/G | — | uncertain significance |
| rs2530963647 | 4:95,206,115 | G/A | — | uncertain significance |
| rs139130080 | 4:95,206,143 | G/A | — | uncertain significance |
| rs114252234 | 4:95,206,147 | G/A | — | benign |
| rs13135934 | 4:95,207,688 | G/C | intron variant | — |
| rs61755304 | 4:95,210,674 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.