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 10:71785051 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM057323

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13252

HGVS names

This variant has 5 HGVS names - Hide

10:g.71785051T>C
ENST00000622827.4:c.5663T>C
ENSP00000483211.1:p.Phe1888Ser
ENST00000224721.10:c.5678T>C
ENSP00000224721.8:p.Phe1893Ser

About this variant

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

Variant displays