Most severe consequence
 
Missense variant
Alleles
A/C|Ancestral: A
Location

Chromosome 19:13261495 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM014169

Evidence status

Clinical significance

HGVS names

This variant has 50 HGVS names - Show

Synonyms

This variant has 4 synonyms - Show

Original source

Variants (including SNPs and indels) imported from dbSNP (release 149)|View in dbSNP

About this variant

This variant overlaps 26 transcripts, 1 regulatory feature, is associated with 3 phenotypes and is mentioned in 2 citations.

Description from SNPedia

Description not available [More information from SNPedia]

Variant displays