Original source

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

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

Chromosome 1:173914743 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM860004

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 9 HGVS names - Hide

1:g.173914743G>A
ENST00000494024.1:n.444C>T
ENST00000367698.3:c.218C>T
ENSP00000356671.3:p.Pro73Leu
ENST00000617423.4:c.218C>T
ENSP00000478688.1:p.Pro73Leu
LRG_577:g.7636C>T
LRG_577t1:c.218C>T
LRG_577p1:p.Pro73Leu

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 5 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 4 phenotypes.

Variant displays