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 (C)
Location

Chromosome 17:4902311 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM970306

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

HGVS names

This variant has 10 HGVS names - Hide

Variant allele A
17:g.4902311G>A
ENST00000575637.1:n.71C>T
ENST00000293780.4:c.250C>T
ENSP00000293780.4:p.Arg84Ter
ENST00000381365.3:c.*1778G>A

Variant allele C
17:g.4902311G>C
ENST00000575637.1:n.71C>G
ENST00000293780.4:c.250C>G
ENSP00000293780.4:p.Arg84Gly
ENST00000381365.3:c.*1778G>C

About this variant

This variant overlaps 22 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays