Original source

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

Alleles
C/G|Ancestral: C|Ambiguity code: S
Location

Chromosome 13:110162425 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM061689

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 960, NM_001845.4:c.4267G>C

HGVS names

This variant has 5 HGVS names - Hide

13:g.110162425C>G
ENST00000474391.1:n.114G>C
ENST00000467182.1:n.46G>C
ENST00000375820.8:c.4267G>C
ENSP00000364979.4:p.Gly1423Arg

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays