Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 17:44913334 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM010049 ; PhenCode HIFD_GFAP:c.715C>T (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 17 HGVS names - click the plus to show

17:g.44913334G>A
ENST00000587997.5:c.191C>T
ENSP00000465624.1:p.Arg65Cys
ENST00000585728.5:c.*359C>T
ENST00000588316.1:c.619C>T
ENSP00000465629.1:p.Arg207Cys
ENST00000588957.5:c.-18C>T
ENST00000376990.8:c.*114C>T
ENST00000592320.5:c.618+394C>T
ENST00000253408.9:c.715C>T
ENSP00000253408.4:p.Arg239Cys
ENST00000435360.6:c.715C>T
ENSP00000403962.1:p.Arg239Cys
ENST00000586793.5:c.715C>T
ENSP00000468500.1:p.Arg239Cys
ENST00000590922.1:n.365C>T
ENST00000588735.1:c.82+2071C>T

About this variant

This variant overlaps 21 transcripts and is associated with 4 phenotypes.

Variant displays