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 1:17044882 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CD041934, CM020965

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 22 HGVS names - Hide

Variant allele A
1:g.17044882G>A
ENST00000491274.5:c.37C>T
ENSP00000480482.1:p.Arg13Ter
ENST00000485515.5:n.67C>T
ENST00000375499.7:c.79C>T
ENSP00000364649.3:p.Arg27Ter
ENST00000463045.2:c.-93C>T
ENST00000466613.2:n.91C>T
LRG_316:g.14289C>T
LRG_316t1:c.79C>T
LRG_316p1:p.Arg27Ter

Variant allele C
1:g.17044882G>C
ENST00000491274.5:c.37C>G
ENSP00000480482.1:p.Arg13Gly
ENST00000485515.5:n.67C>G
ENST00000375499.7:c.79C>G
ENSP00000364649.3:p.Arg27Gly
ENST00000463045.2:c.-93C>G
ENST00000466613.2:n.91C>G
LRG_316:g.14289C>G
LRG_316t1:c.79C>G
LRG_316p1:p.Arg27Gly

About this variant

This variant overlaps 14 transcripts and is associated with 6 phenotypes.

Variant displays