Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: 0.02 (A)
Location

Chromosome 10:72360387 (forward strand) | View in location tab

Co-located

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

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 8 HGVS names - click the plus to show

10:g.72360387G>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_94t1.1:c.272C>T
LRG_94p1.1:p.Ala91Val

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni2.5

Variation displays