Human (GRCh38.p13)
Most severe consequence
 
missense variant
Alleles
T/A/C|Ancestral: T
Change tolerance
CADD: A:17.03, C:17.25
Location

Chromosome 12:25209904 (forward strand)|VCF:12  25209904  rs104894360  T  A,C

Co-located variants

HGMD-PUBLIC CM061083 ; COSMIC COSV55596451

Evidence status

Clinical significance

HGVS names

This variant has 60 HGVS names - Show

Synonyms

This variant has 5 synonyms - Show

Original source

Variants (including SNPs and indels) imported from dbSNP (release 154)|View in dbSNP

About this variant

This variant overlaps 14 transcripts, is associated with 12 phenotypes and is mentioned in 13 citations.

Description from SNPedia

aka c.458A>T (p.Asp153Val)... Show