Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 13:110187311 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM076123

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 962, NM_001845.4:c.1555G>A

HGVS names

This variant has 3 HGVS names - Hide

13:g.110187311C>T
ENST00000375820.8:c.1555G>A
ENSP00000364979.4:p.Gly519Arg

About this variant

This variant overlaps 2 transcripts and is associated with 2 phenotypes.

Variant displays