Original source

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

Alleles
A/C/T|Ancestral: A|Ambiguity code: H|MAF: 0.29 (C)
Location

Chromosome 1:154454494 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM034737

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 7 synonyms - Show

HGVS names

This variant has 16 HGVS names - Hide

Variant allele T
1:g.154454494A>T
ENST00000368485.7:c.1073A>T
ENSP00000357470.3:p.Asp358Val
ENST00000507256.1:n.271A>T
ENST00000344086.8:c.1066+4514A>T
ENST00000502679.1:n.386A>T
ENST00000515190.1:c.481A>T
ENSP00000423036.1:p.Asp161Val

Variant allele C
1:g.154454494A>C
ENST00000368485.7:c.1073A>C
ENSP00000357470.3:p.Asp358Ala
ENST00000507256.1:n.271A>C
ENST00000344086.8:c.1066+4514A>C
ENST00000502679.1:n.386A>C
ENST00000515190.1:c.481A>C
ENSP00000423036.1:p.Asp161Ala

Genotyping chips

This variant has assays on 9 chips - Show

About this variant

This variant overlaps 12 transcripts, has 3991 sample genotypes, is associated with 4 phenotypes and is mentioned in 90 citations.

Variant displays