Original source

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

Alleles
C/G|Ancestral: C|Ambiguity code: S|MAF: 0.10 (G)
Location

Chromosome 12:40263898 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM104618

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 6 synonyms - Show

HGVS names

This variant has 7 HGVS names - Hide

12:g.40263898C>G
ENST00000343742.6:c.1653C>G
ENSP00000341930.2:p.Asn551Lys
ENST00000416796.5:c.897C>G
ENSP00000398726.1:p.Asn299Lys
ENST00000298910.11:c.1653C>G
ENSP00000298910.7:p.Asn551Lys

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 3 transcripts, 1 regulatory feature, has 4028 sample genotypes, is associated with 1 phenotype and is mentioned in 6 citations.

Variant displays