Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: 0.01 (A)
Location

Chromosome 10:70600631 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM022053 ; PhenCode PRF1base_D0067:g.3545C>T (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 8 HGVS names - Hide

10:g.70600631G>A
ENST00000373209.2:c.272C>T
ENSP00000362305.1:p.Ala91Val
ENST00000441259.1:c.272C>T
ENSP00000398568.1:p.Ala91Val
LRG_94:g.7145C>T
LRG_94t1:c.272C>T
LRG_94p1:p.Ala91Val

Genotyping chips

This variant has assays on: Illumina_HumanOmni2.5, HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 3 transcripts, has 2544 sample genotypes, is associated with 4 phenotypes and is mentioned in 5 citations.

Variant displays