Original source

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

Alleles
C/A/G|Ancestral: C|Ambiguity code: V|MAF: < 0.01 (A)
Location

Chromosome 8:96160568 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM0910801

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 14 HGVS names - Hide

Variant allele A
8:g.96160568C>A
ENST00000287020.6:c.125G>T
ENSP00000287020.4:p.Gly42Val
ENST00000620978.1:c.125G>T
ENSP00000480170.1:p.Gly42Val
ENST00000621429.1:c.125G>T
ENSP00000483711.1:p.Gly42Val

Variant allele G
8:g.96160568C>G
ENST00000287020.6:c.125G>C
ENSP00000287020.4:p.Gly42Ala
ENST00000620978.1:c.125G>C
ENSP00000480170.1:p.Gly42Ala
ENST00000621429.1:c.125G>C
ENSP00000483711.1:p.Gly42Ala

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 6 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays