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 2:178456101 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM072984

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 16690

HGVS names

This variant has 20 HGVS names - Hide

Variant allele T
2:g.178456101C>T
ENST00000442710.5:c.341C>T
ENSP00000410776.1:p.Arg115Ter
ENST00000375129.8:c.499C>T
ENSP00000364271.4:p.Arg167Ter
ENST00000444615.1:c.141C>T
ENSP00000399579.1:p.Arg48Ter
ENST00000409117.7:c.499C>T
ENSP00000386647.3:p.Arg167Ter
ENST00000437056.5:n.1369C>T

Variant allele G
2:g.178456101C>G
ENST00000442710.5:c.341C>G
ENSP00000410776.1:p.Arg115Gly
ENST00000375129.8:c.499C>G
ENSP00000364271.4:p.Arg167Gly
ENST00000444615.1:c.141C>G
ENSP00000399579.1:p.Arg48Gly
ENST00000409117.7:c.499C>G
ENSP00000386647.3:p.Arg167Gly
ENST00000437056.5:n.1369C>G

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 22 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays