Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
C/G | Ancestral: C | Ambiguity code: S
Location

Chromosome 17:44911277 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM021608 ; PhenCode HIFD_GFAP:c.1086G>C (C/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 5 synonyms - click the plus to show

This variant has 14 HGVS names - click the plus to show

17:g.44911277C>G
ENST00000587997.5:c.562G>C
ENSP00000465624.1:p.Glu188Asp
ENST00000592320.5:c.663G>C
ENSP00000465320.1:p.Glu221Asp
ENST00000253408.9:c.1086G>C
ENSP00000253408.4:p.Glu362Asp
ENST00000435360.6:c.1086G>C
ENSP00000403962.1:p.Glu362Asp
ENST00000586793.5:c.1086G>C
ENSP00000468500.1:p.Glu362Asp
ENST00000588640.5:n.466G>C
ENST00000585543.5:n.239G>C
ENST00000588735.1:c.83-3161G>C

About this variant

This variant overlaps 23 transcripts, 2 regulatory features and is associated with 3 phenotypes.

Variant displays