Original source

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

Alleles
G/A/C|Ancestral: G|Ambiguity code: V|MAF: < 0.01 (A)
Location

Chromosome 1:17033078 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM012800

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 26 HGVS names - Hide

Variant allele A
1:g.17033078G>A
ENST00000475506.1:n.185C>T
ENST00000491274.5:c.226C>T
ENSP00000480482.1:p.Arg76Ter
ENST00000485515.5:n.256C>T
ENST00000375499.7:c.268C>T
ENSP00000364649.3:p.Arg90Ter
ENST00000466613.2:n.280C>T
ENST00000463045.2:c.97C>T
ENSP00000481376.1:p.Arg33Ter
LRG_316:g.26093C>T
LRG_316t1:c.268C>T
LRG_316p1:p.Arg90Ter

Variant allele C
1:g.17033078G>C
ENST00000475506.1:n.185C>G
ENST00000491274.5:c.226C>G
ENSP00000480482.1:p.Arg76Gly
ENST00000485515.5:n.256C>G
ENST00000375499.7:c.268C>G
ENSP00000364649.3:p.Arg90Gly
ENST00000466613.2:n.280C>G
ENST00000463045.2:c.97C>G
ENSP00000481376.1:p.Arg33Gly
LRG_316:g.26093C>G
LRG_316t1:c.268C>G
LRG_316p1:p.Arg90Gly

About this variant

This variant overlaps 14 transcripts, has 2504 sample genotypes, is associated with 6 phenotypes and is mentioned in 6 citations.

Variant displays