Original source

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

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

Chromosome 1:173914570 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930050, CM950107

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 370

This variation has 7 HGVS names - click the plus to show

1:g.173914570G>A
ENST00000494024.1:n.617C>T
ENST00000487183.1:n.96C>T
ENST00000367698.3:c.391C>T
ENSP00000356671.3:p.Leu131Phe
ENST00000617423.3:c.391C>T
ENSP00000478688.1:p.Leu131Phe

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variation displays