Original source

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

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

Chromosome 17:44911308 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM032580 ; PhenCode HIFD_GFAP:c.1055T>C (A/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 15 HGVS names - click the plus to show

17:g.44911308A>G
ENST00000587997.5:c.531T>C
ENSP00000465624.1:p.Leu178Pro
ENST00000376990.8:c.*454T>C
ENST00000592320.5:c.632T>C
ENSP00000465320.1:p.Leu211Pro
ENST00000435360.6:c.1055T>C
ENSP00000403962.1:p.Leu352Pro
ENST00000253408.9:c.1055T>C
ENSP00000253408.4:p.Leu352Pro
ENST00000586793.5:c.1055T>C
ENSP00000468500.1:p.Leu352Pro
ENST00000588640.5:n.435T>C
ENST00000585543.5:n.208T>C
ENST00000588735.1:c.83-3192T>C

About this variant

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

Variant displays