Original source

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

Alleles
G/A/T|Ancestral: G|Ambiguity code: D|MAF: < 0.01 (T)
Location

Chromosome 17:44908075 (forward strand)|View in location tab

Co-located variants

COSMIC COSM980059 ; HGMD-PUBLIC CM010052 ; PhenCode HIFD_GFAP:c.1246C>T (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2165, GFAP:c.1246C>T

HGVS names

This variant has 22 HGVS names - Hide

Variant allele A
17:g.44908075G>A
ENST00000592706.5:n.118C>T
ENST00000592065.1:n.40C>T
ENST00000253408.9:c.1246C>T
ENSP00000253408.4:p.Arg416Trp
ENST00000591880.1:c.112C>T
ENSP00000467530.1:p.Arg38Trp
ENST00000589701.1:n.148C>T
ENST00000585543.5:n.399C>T
ENST00000588735.1:c.124C>T
ENSP00000466598.1:p.Arg42Trp

Variant allele T
17:g.44908075G>T
ENST00000592706.5:n.118C>A
ENST00000592065.1:n.40C>A
ENST00000253408.9:c.1246C>A
ENST00000253408.9:c.1246C>A(p.=)
ENST00000591880.1:c.112C>A
ENST00000591880.1:c.112C>A(p.=)
ENST00000589701.1:n.148C>A
ENST00000585543.5:n.399C>A
ENST00000588735.1:c.124C>A
ENST00000588735.1:c.124C>A(p.=)

About this variant

This variant overlaps 44 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays