Original source

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

Alleles
C/A|Ancestral: C|Ambiguity code: M
Location

Chromosome 1:45014976 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM981992

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4808

HGVS names

This variant has 7 HGVS names - Hide

1:g.45014976C>A
ENST00000472254.1:n.665C>A
ENST00000466193.1:n.438C>A
ENST00000465678.1:n.327C>A
ENST00000494399.5:n.1579C>A
ENST00000246337.8:c.912C>A
ENSP00000246337.4:p.Asn304Lys

About this variant

This variant overlaps 22 transcripts and is associated with 2 phenotypes.

Variant displays