Original source

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

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

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


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 - Show

HGVS names

This variant has 8 HGVS names - Show

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