Original source

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

Alleles
C/G/T|Ancestral: C|Ambiguity code: B
Location

Chromosome 1:173904010 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM880011, CM890018

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 T
1:g.173904010C>T
ENST00000367698.3:c.1274G>A
ENSP00000356671.3:p.Arg425His
ENST00000617423.4:c.659G>A
ENSP00000478688.1:p.Arg220His
LRG_577:g.18369G>A
LRG_577t1:c.1274G>A
LRG_577p1:p.Arg425His

Variant allele G
1:g.173904010C>G
ENST00000367698.3:c.1274G>C
ENSP00000356671.3:p.Arg425Pro
ENST00000617423.4:c.659G>C
ENSP00000478688.1:p.Arg220Pro
LRG_577:g.18369G>C
LRG_577t1:c.1274G>C
LRG_577p1:p.Arg425Pro

About this variant

This variant overlaps 8 transcripts and is associated with 4 phenotypes.

Variant displays