Original source

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

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

Chromosome 1:45013187 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM961404

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4803

This variant has 21 HGVS names - click the plus to show

1:g.45013187C>T
ENST00000462688.5:n.236C>T
ENST00000491773.5:n.339C>T
ENST00000428106.1:c.165C>T
ENSP00000400253.1:p.Pro56Leu
ENST00000494399.5:n.249C>T
ENST00000469548.5:n.381C>T
ENST00000478467.5:n.217-105C>T
ENST00000434478.5:c.185C>T
ENSP00000404489.1:p.Pro62Leu
ENST00000463092.5:n.266C>T
ENST00000486699.5:n.286C>T
ENST00000490385.5:n.183C>T
ENST00000460334.5:n.193C>T
ENST00000496439.1:n.164C>T
ENST00000491300.5:n.285C>T
ENST00000473012.1:n.137C>T
ENST00000246337.8:c.185C>T
ENSP00000246337.4:p.Pro62Leu
ENST00000460906.5:n.183C>T
ENST00000461035.5:n.289C>T

About this variant

This variant overlaps 23 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays