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 13:110179370 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM056313

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 956, NM_001845.4:c.2245G>A

HGVS names

This variant has 3 HGVS names - Hide

13:g.110179370C>T
ENST00000375820.8:c.2245G>A
ENSP00000364979.4:p.Gly749Ser

About this variant

This variant overlaps 1 transcript and is associated with 2 phenotypes.

Variant displays