Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 1:45014017 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM981991

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4807

HGVS names

This variant has 17 HGVS names - Hide

1:g.45014017C>T
ENST00000462688.5:n.710C>T
ENST00000428106.1:c.454+226C>T
ENST00000494399.5:n.723C>T
ENST00000469548.5:n.779C>T
ENST00000478467.5:n.586C>T
ENST00000486699.5:n.703C>T
ENST00000434478.5:c.520C>T
ENSP00000404489.1:p.Leu174Phe
ENST00000490385.5:n.657C>T
ENST00000460334.5:n.610C>T
ENST00000496439.1:n.679C>T
ENST00000491300.5:n.702C>T
ENST00000473012.1:n.630C>T
ENST00000246337.8:c.583C>T
ENSP00000246337.4:p.Leu195Phe
ENST00000460906.5:n.717C>T

About this variant

This variant overlaps 22 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays