Original source

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

Alleles
G/A/T|Ancestral: G|Ambiguity code: D
Location

Chromosome 10:70598687 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM992954 ; PhenCode PRF1base_D0067:g.5489C>T (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 16 HGVS names - Hide

Variant allele A
10:g.70598687G>A
ENST00000373209.2:c.1034C>T
ENSP00000362305.1:p.Pro345Leu
ENST00000441259.1:c.1034C>T
ENSP00000398568.1:p.Pro345Leu
LRG_94:g.9089C>T
LRG_94t1:c.1034C>T
LRG_94p1:p.Pro345Leu

Variant allele T
10:g.70598687G>T
ENST00000373209.2:c.1034C>A
ENSP00000362305.1:p.Pro345His
ENST00000441259.1:c.1034C>A
ENSP00000398568.1:p.Pro345His
LRG_94:g.9089C>A
LRG_94t1:c.1034C>A
LRG_94p1:p.Pro345His

About this variant

This variant overlaps 6 transcripts and is associated with 3 phenotypes.

Variant displays