Original source

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

Alleles
T/C|Ancestral: T|Ambiguity code: Y
Location

Chromosome 17:42901105 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM960668

Most severe consequence
 
Missense variant
Evidence status

Synonyms

LSDB 6320, 2010_April_001_054_G6PC_232200_0007

HGVS names

This variant has 11 HGVS names - Hide

17:g.42901105T>C
ENST00000585489.1:c.229T>C
ENSP00000466202.1:p.Trp77Arg
ENST00000588481.1:n.294T>C
ENST00000592383.5:c.229T>C
ENSP00000465958.1:p.Trp77Arg
ENST00000253801.6:c.229T>C
ENSP00000253801.1:p.Trp77Arg
LRG_147:g.5308T>C
LRG_147t1:c.229T>C
LRG_147p1:p.Trp77Arg

About this variant

This variant overlaps 8 transcripts and is associated with 2 phenotypes.

Variant displays