Original source

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

Alleles
T/A|Ancestral: T|Ambiguity code: W
Location

Chromosome 17:44915258 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM013267 ; PhenCode HIFD_GFAP:c.229A>T (T/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 19 HGVS names - Hide

17:g.44915258T>A
ENST00000585728.5:c.181+48A>T
ENST00000588316.1:c.229A>T
ENSP00000465629.1:p.Asn77Tyr
ENST00000591327.1:n.243A>T
ENST00000588957.5:c.-272+559A>T
ENST00000376990.8:c.229A>T
ENSP00000366189.4:p.Asn77Tyr
ENST00000592320.5:c.229A>T
ENSP00000465320.1:p.Asn77Tyr
ENST00000253408.9:c.229A>T
ENSP00000253408.4:p.Asn77Tyr
ENST00000435360.6:c.229A>T
ENSP00000403962.1:p.Asn77Tyr
ENST00000586793.5:c.229A>T
ENSP00000468500.1:p.Asn77Tyr
ENST00000588037.1:c.229A>T
ENSP00000466163.1:p.Asn77Tyr
ENST00000588735.1:c.82+147A>T

About this variant

This variant overlaps 20 transcripts and is associated with 4 phenotypes.

Variant displays