HAND2
heart and neural crest derivatives expressed 2
Summary
The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. [provided by RefSeq, Jul 2008]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10024737 | 4:174,448,143 | T/C | upstream gene variant | — |
| rs140861359 | 4:174,448,432 | T/G | — | likely benign |
| rs998090089 | 4:174,448,434 | C/G | — | uncertain significance |
| rs2477190315 | 4:174,448,435 | T/C | — | uncertain significance |
| rs79728781 | 4:174,448,488 | C/G | — | uncertain significance |
| rs368269900 | 4:174,448,497 | G/T | — | uncertain significance |
| rs115738185 | 4:174,448,544 | G/C | — | likely benign |
| rs1731591019 | 4:174,449,938 | T/C | — | uncertain significance |
| rs368515409 | 4:174,449,949 | C/T | — | likely benign |
| rs932886269 | 4:174,449,957 | C/T | — | uncertain significance |
| rs545495563 | 4:174,449,982 | G/A | — | benign |
| rs483353128 | 4:174,450,051 | G/T | synonymous variant | pathogenic |
| rs199503638 | 4:174,450,056 | C/T | — | uncertain significance |
| rs2477195667 | 4:174,450,058 | T/C | — | uncertain significance |
| rs2110905803 | 4:174,450,076 | A/G | — | uncertain significance |
| rs775523513 | 4:174,450,117 | C/T | — | likely benign |
| rs147931838 | 4:174,450,150 | C/T | — | benign |
| rs751803965 | 4:174,450,151 | G/C | — | uncertain significance |
| rs75152023 | 4:174,450,158 | G/C | — | uncertain significance |
| rs529197560 | 4:174,450,164 | C/G | — | uncertain significance |
| rs766470524 | 4:174,450,172 | G/C | — | conflicting classifications of pathogenicity |
| rs562712418 | 4:174,450,189 | C/T | — | likely benign |
| rs756632787 | 4:174,450,194 | C/A | — | uncertain significance |
| rs758127022 | 4:174,450,226 | G/A | — | uncertain significance |
| rs779885625 | 4:174,450,227 | C/T | — | uncertain significance |
| rs746823284 | 4:174,450,228 | G/A | — | likely benign |
| rs768515588 | 4:174,450,235 | G/T | — | uncertain significance |
| rs1553974835 | 4:174,450,242 | C/A | — | pathogenic |
| rs59621536 | 4:174,450,288 | G/C | — | benign |
| rs2477197233 | 4:174,450,303 | C/T | — | uncertain significance |
| rs758014710 | 4:174,450,327 | C/T | — | likely benign |
| rs1273179865 | 4:174,450,329 | C/G | — | uncertain significance |
| rs547459770 | 4:174,450,334 | C/T | — | benign |
| rs748157629 | 4:174,450,366 | G/T | — | likely benign |
| rs1429239453 | 4:174,450,373 | G/A | — | uncertain significance |
| rs867226231 | 4:174,450,377 | C/T | — | uncertain significance |
| rs1439012129 | 4:174,450,379 | G/C | — | uncertain significance |
| rs567960889 | 4:174,450,380 | C/T | — | likely benign |
| rs536958034 | 4:174,450,417 | G/A | — | benign |
| rs2110907172 | 4:174,450,418 | G/A | — | uncertain significance |
| rs905723042 | 4:174,450,419 | G/A | — | uncertain significance |
| rs550068906 | 4:174,450,428 | C/T | — | uncertain significance |
| rs146646015 | 4:174,451,566 | G/A | — | benign |
| rs3822127 | 4:174,451,569 | G/C | — | — |
| rs79467406 | 4:174,452,825 | G/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.