Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome 10:70598966 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM992952 ; PhenCode PRF1base_D0067:g.5210A>G (T/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

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

10:g.70598966T>C
ENST00000373209.2:c.755A>G
ENSP00000362305.1:p.Asn252Ser
ENST00000441259.1:c.755A>G
ENSP00000398568.1:p.Asn252Ser
LRG_94:g.8810A>G
LRG_94t1:c.755A>G
LRG_94p1:p.Asn252Ser

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip, Illumina_HumanOmni5

About this variant

This variant overlaps 3 transcripts, has 2504 sample genotypes and is associated with 4 phenotypes.

Variant displays