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 17:35577180 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3387807 ; HGMD-PUBLIC CM981517

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 18 HGVS names - Hide

Variant allele A
17:g.35577180G>A
ENST00000225873.8:c.538C>T
ENSP00000225873.3:p.Arg180Ter
ENST00000613219.4:c.538C>T
ENSP00000482609.1:p.Arg180Ter
ENST00000585380.1:c.538C>T
ENSP00000466280.1:p.Arg180Ter
ENST00000586663.1:c.538C>T
ENSP00000466894.1:p.Arg180Ter

Variant allele C
17:g.35577180G>C
ENST00000225873.8:c.538C>G
ENSP00000225873.3:p.Arg180Gly
ENST00000613219.4:c.538C>G
ENSP00000482609.1:p.Arg180Gly
ENST00000585380.1:c.538C>G
ENSP00000466280.1:p.Arg180Gly
ENST00000586663.1:c.538C>G
ENSP00000466894.1:p.Arg180Gly

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 14 transcripts and is associated with 3 phenotypes.

Variant displays