Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | View in dbSNP

G/A | Ancestral: G | Ambiguity code: R | MAF: < 0.01 (A)

Chromosome 11:6615172 (forward strand) | View in location tab


with HGMD-PUBLIC CM990376, CD084239

Most severe consequence
Missense variant
Evidence status

Clinical significance


Uniprot VAR_009612

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 32 transcripts, has 2504 sample genotypes, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays