Original source

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

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

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

Co-located variants

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 8 HGVS names - Hide

10:g.70599048G>A
ENST00000373209.2:c.673C>T
ENSP00000362305.1:p.Arg225Trp
ENST00000441259.1:c.673C>T
ENSP00000398568.1:p.Arg225Trp
LRG_94:g.8728C>T
LRG_94t1:c.673C>T
LRG_94p1:p.Arg225Trp

About this variant

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

Variant displays