Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: < 0.01 (T)
Location

Chromosome 16:89546737 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM085726

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 10 HGVS names - Hide

16:g.89546737C>T
ENST00000268704.6:c.1529C>T
ENSP00000268704.2:p.Ala510Val
ENST00000620811.4:c.-48C>T
ENST00000563218.5:n.255C>T
ENST00000561911.5:c.74C>T
ENSP00000457387.1:p.Ala25Val
ENST00000566221.5:c.127C>T
ENSP00000457298.1:p.Ala43Val
ENST00000569820.5:c.*202C>T

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 10 transcripts, has 2504 sample genotypes, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays