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 17:42909418 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM960672, CM950489

Most severe consequence
 
Missense variant
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.42909418G>A
ENST00000585489.1:c.447-1497G>A
ENST00000253801.6:c.562G>A
ENSP00000253801.1:p.Gly188Ser
ENST00000592383.5:c.485G>A
ENSP00000465958.1:p.Arg162Lys
LRG_147:g.13621G>A
LRG_147t1:c.562G>A
LRG_147p1:p.Gly188Ser

Variant allele C
17:g.42909418G>C
ENST00000585489.1:c.447-1497G>C
ENST00000253801.6:c.562G>C
ENSP00000253801.1:p.Gly188Arg
ENST00000592383.5:c.485G>C
ENSP00000465958.1:p.Arg162Thr
LRG_147:g.13621G>C
LRG_147t1:c.562G>C
LRG_147p1:p.Gly188Arg

About this variant

This variant overlaps 8 transcripts, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays