Original source

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

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

Chromosome 2:240873995 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM910017

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_000030.2:c.613T>C, 12563

HGVS names

This variant has 4 HGVS names - Hide

2:g.240873995T>C
ENST00000476698.1:n.332+946T>C
ENST00000307503.3:c.613T>C
ENSP00000302620.3:p.Ser205Pro

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays