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 5:1264541 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM054141

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5548, NM_198253.2:c.2706G>C

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 7 transcripts and is associated with 3 phenotypes.

Variant displays