rs863224140

Orientation

plus

Stabilized

plus

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

Make rs863224140(-;-)

Make rs863224140(-;GAAGCATTTATCATTCAC)

Make rs863224140(GAAGCATTTATCATTCAC;GAAGCATTTATCATTCAC)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

193614803

Gene

OPA1

is a	snp
is	mentioned by
dbSNP	rs863224140
dbSNP (classic)	rs863224140
ClinGen	rs863224140
ebi	rs863224140
HLI	rs863224140
Exac	rs863224140
Gnomad	rs863224140
Varsome	rs863224140
LitVar	rs863224140
Map	rs863224140
PheGenI	rs863224140
Biobank	rs863224140
1000 genomes	rs863224140
hgdp	rs863224140
ensembl	rs863224140
geneview	rs863224140
scholar	rs863224140
google	rs863224140
pharmgkb	rs863224140
gwascentral	rs863224140
openSNP	rs863224140
23andMe	rs863224140
SNPshot	rs863224140
SNPdbe	rs863224140
MSV3d	rs863224140
GWAS Ctlg	rs863224140

Max Magnitude

0

ClinVar
Risk	rs863224140(-;-) Rs863224140(TTCACGAAGCATTTATCA;TTCACGAAGCATTTATCA)
Alt	rs863224140(-;-) Rs863224140(TTCACGAAGCATTTATCA;TTCACGAAGCATTTATCA)
Reference	rs863224140(GAAGCATTTATCATTCAC;GAAGCATTTATCATTCAC)
Significance	Pathogenic
Disease	not specified Dominant hereditary optic atrophy EMG abnormality EMG: myopathic abnormalities EMG: myotonic runs Elevated serum creatine phosphokinase Hepatic steatosis Hypomimic face Muscle weakness Progressive proximal muscle weakness Ptosis not provided Autosomal dominant optic atrophy plus syndrome
Variation	info
Gene	OPA1
CLNDBN	not specified Dominant hereditary optic atrophy EMG abnormality EMG: myopathic abnormalities EMG: myotonic runs Elevated serum creatine phosphokinase Hepatic steatosis Hypomimic face Muscle weakness Progressive proximal muscle weakness Ptosis not provided Autosomal dominant optic atrophy plus syndrome
Reversed	0
HGVS	NC_000003.11:g.193332592_193332609del18
CLNSRC
CLNACC	RCV000197686.2, RCV000406799.1, RCV000415438.1, RCV000487644.1, RCV000489905.1,