Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
T/A | Ancestral: T | Ambiguity code: W | MAF: < 0.01 (A)
Location

Chromosome 7:30971183 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM010307

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 10 HGVS names - click the plus to show

About this variant

This variant overlaps 10 transcripts, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays