Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 13:27924381 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM035998

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 3 HGVS names - click the plus to show

13:g.27924381G>A
ENST00000381033.4:c.532G>A
ENSP00000370421.4:p.Glu178Lys

About this variant

This variant overlaps 2 transcripts, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays