Original source

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

C/G/T|Ancestral: C|Ambiguity code: B

Chromosome 11:17387935 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM050651, CM050650

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 11 synonyms - Show

HGVS names

This variant has 14 HGVS names - Show

About this variant

This variant overlaps 20 transcripts, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays