Original source

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

Alleles
G/A/C|Ancestral: G|Ambiguity code: V
Location

Chromosome 1:17044825 (forward strand)|View in location tab

Co-located variants

COSMIC COSM677083 ; HGMD-PUBLIC CM030519, CM020966

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 24 HGVS names - Hide

Variant allele A
1:g.17044825G>A
ENST00000475506.1:n.53C>T
ENST00000491274.5:c.94C>T
ENSP00000480482.1:p.Arg32Ter
ENST00000485515.5:n.124C>T
ENST00000375499.7:c.136C>T
ENSP00000364649.3:p.Arg46Ter
ENST00000466613.2:n.148C>T
ENST00000463045.2:c.-36C>T
LRG_316:g.14346C>T
LRG_316t1:c.136C>T
LRG_316p1:p.Arg46Ter

Variant allele C
1:g.17044825G>C
ENST00000475506.1:n.53C>G
ENST00000491274.5:c.94C>G
ENSP00000480482.1:p.Arg32Gly
ENST00000485515.5:n.124C>G
ENST00000375499.7:c.136C>G
ENSP00000364649.3:p.Arg46Gly
ENST00000466613.2:n.148C>G
ENST00000463045.2:c.-36C>G
LRG_316:g.14346C>G
LRG_316t1:c.136C>G
LRG_316p1:p.Arg46Gly

About this variant

This variant overlaps 14 transcripts and is associated with 4 phenotypes.

Variant displays