rs377274761

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs377274761(C;T)

Make rs377274761(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

87968393

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs377274761
dbSNP (classic)	rs377274761
ClinGen	rs377274761
ebi	rs377274761
HLI	rs377274761
Exac	rs377274761
Gnomad	rs377274761
Varsome	rs377274761
LitVar	rs377274761
Map	rs377274761
PheGenI	rs377274761
Biobank	rs377274761
1000 genomes	rs377274761
hgdp	rs377274761
ensembl	rs377274761
geneview	rs377274761
scholar	rs377274761
google	rs377274761
pharmgkb	rs377274761
gwascentral	rs377274761
openSNP	rs377274761
23andMe	rs377274761
SNPshot	rs377274761
SNPdbe	rs377274761
MSV3d	rs377274761
GWAS Ctlg	rs377274761

Max Magnitude

0

ClinVar
Risk	rs377274761(T;T)
Alt	rs377274761(T;T)
Reference	Rs377274761(C;C)
Significance	Probable-Pathogenic
Disease	Amblyopia Breech presentation Developmental regression Dysmyelinating leukodystrophy EEG abnormality EMG abnormality EMG: axonal abnormality Global developmental delay Hemiparesis Intrauterine growth retardation Leukodystrophy Loss of ability to walk Neonatal hypoglycemia Nystagmus Progressive visual loss Seizures Small for gestational age Status epilepticus Strabismus
Variation	info
Gene	GALC
CLNDBN	Amblyopia Breech presentation Developmental regression Dysmyelinating leukodystrophy EEG abnormality EMG abnormality EMG: axonal abnormality Global developmental delay Hemiparesis Intrauterine growth retardation Leukodystrophy Loss of ability to walk Neonatal hypoglycemia Nystagmus Progressive visual loss Seizures Small for gestational age Status epilepticus Strabismus
Reversed	0
HGVS	NC_000014.8:g.88434737C>T
CLNSRC
CLNACC	RCV000415223.1,