Original source

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

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

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


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

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: 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 4 citations.

Variant displays