Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome 1:226883817 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM081407

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 12 HGVS names - click the plus to show

1:g.226883817C>T
ENST00000422240.6:c.254C>T
ENSP00000403737.2:p.Ala85Val
ENST00000366782.5:c.353C>T
ENSP00000355746.1:p.Ala118Val
ENST00000366783.7:c.254C>T
ENSP00000355747.3:p.Ala85Val
ENST00000460775.5:c.-21-4274C>T
ENST00000495488.5:c.254C>T
ENSP00000429682.1:p.Ala85Val
ENST00000626989.2:c.353C>T
ENSP00000486498.1:p.Ala118Val

About this variant

This variant overlaps 8 transcripts and is associated with 3 phenotypes.

Variant displays