Original source

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

G/A | Ancestral: G | Ambiguity code: R

Chromosome 10:70599048 (forward strand) | View in location tab


with COSMIC COSM920026 (G/A) ; HGMD-PUBLIC CM992951 ; PhenCode PRF1base_D0067:g.5128C>T (G/A)

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

About this variant

This variant overlaps 3 transcripts and is associated with 3 phenotypes.

Variant displays