Original source

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

Alleles
C/G/T|Ancestral: C|Ambiguity code: B
Location

Chromosome 1:45014835 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM920703, CD962174

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4802

HGVS names

This variant has 14 HGVS names - Hide

Variant allele T
1:g.45014835C>T
ENST00000472254.1:n.627C>T
ENST00000466193.1:n.297C>T
ENST00000465678.1:n.289C>T
ENST00000494399.5:n.1541C>T
ENST00000246337.8:c.874C>T
ENSP00000246337.4:p.Arg292Trp

Variant allele G
1:g.45014835C>G
ENST00000472254.1:n.627C>G
ENST00000466193.1:n.297C>G
ENST00000465678.1:n.289C>G
ENST00000494399.5:n.1541C>G
ENST00000246337.8:c.874C>G
ENSP00000246337.4:p.Arg292Gly

About this variant

This variant overlaps 44 transcripts, 2 regulatory features and is associated with 2 phenotypes.

Variant displays