Original source

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

Alleles
G/A/C|Ancestral: G|Ambiguity code: V
Location

Chromosome 17:44915261 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM013266, CM051048 ; PhenCode HIFD_GFAP:c.226C>T (G/A), HIFD_GFAP:c.226C>G (G/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 38 HGVS names - Hide

Variant allele A
17:g.44915261G>A
ENST00000585728.5:c.181+45C>T
ENST00000588316.1:c.226C>T
ENSP00000465629.1:p.Leu76Phe
ENST00000591327.1:n.240C>T
ENST00000588957.5:c.-272+556C>T
ENST00000376990.8:c.226C>T
ENSP00000366189.4:p.Leu76Phe
ENST00000592320.5:c.226C>T
ENSP00000465320.1:p.Leu76Phe
ENST00000253408.9:c.226C>T
ENSP00000253408.4:p.Leu76Phe
ENST00000435360.6:c.226C>T
ENSP00000403962.1:p.Leu76Phe
ENST00000586793.5:c.226C>T
ENSP00000468500.1:p.Leu76Phe
ENST00000588037.1:c.226C>T
ENSP00000466163.1:p.Leu76Phe
ENST00000588735.1:c.82+144C>T

Variant allele C
17:g.44915261G>C
ENST00000585728.5:c.181+45C>G
ENST00000588316.1:c.226C>G
ENSP00000465629.1:p.Leu76Val
ENST00000591327.1:n.240C>G
ENST00000588957.5:c.-272+556C>G
ENST00000376990.8:c.226C>G
ENSP00000366189.4:p.Leu76Val
ENST00000592320.5:c.226C>G
ENSP00000465320.1:p.Leu76Val
ENST00000253408.9:c.226C>G
ENSP00000253408.4:p.Leu76Val
ENST00000435360.6:c.226C>G
ENSP00000403962.1:p.Leu76Val
ENST00000586793.5:c.226C>G
ENSP00000468500.1:p.Leu76Val
ENST00000588037.1:c.226C>G
ENSP00000466163.1:p.Leu76Val
ENST00000588735.1:c.82+144C>G

About this variant

This variant overlaps 40 transcripts and is associated with 5 phenotypes.

Variant displays