LAT2
linker for activation of T cells family member 2
Summary
This gene is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein. [provided by RefSeq, Jul 2008]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs543294747 | 7:73,630,343 | C/T | — | uncertain significance |
| rs781894061 | 7:73,630,385 | G/A | — | uncertain significance |
| rs11544216 | 7:73,634,076 | G/A | — | uncertain significance |
| rs1252988686 | 7:73,634,097 | C/T | — | uncertain significance |
| rs548651256 | 7:73,634,295 | G/A | — | likely benign |
| rs369645558 | 7:73,634,320 | C/T | — | likely benign |
| rs368915070 | 7:73,634,547 | G/T | — | uncertain significance |
| rs117343774 | 7:73,637,474 | A/G | intron variant | — |
| rs548830059 | 7:73,638,056 | G/C | — | uncertain significance |
| rs371014575 | 7:73,638,366 | T/C | — | likely benign |
| rs373811351 | 7:73,638,377 | T/C | — | uncertain significance |
| rs1289911909 | 7:73,638,429 | G/A | — | uncertain significance |
| rs370494269 | 7:73,638,450 | C/T | — | uncertain significance |
| rs372672996 | 7:73,638,981 | G/A | — | uncertain significance |
| rs1179004570 | 7:73,639,022 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.