rs147077598

rare variant

plus

Geno	Mag	Summary
(C;C)	5	likely hypomyelination with brainstem and spinal cord involvement and leg spasticity
(C;G)	3	unaffected carrier of rare mutation
(G;G)	0	common

Reference

GRCh38 38.1/141

Chromosome

2

Position

135907342

Gene

DARS

is a	snp
is	mentioned by
dbSNP	rs147077598
dbSNP (classic)	rs147077598
ClinGen	rs147077598
ebi	rs147077598
HLI	rs147077598
Exac	rs147077598
Gnomad	rs147077598
Varsome	rs147077598
LitVar	rs147077598
Map	rs147077598
PheGenI	rs147077598
Biobank	rs147077598
1000 genomes	rs147077598
hgdp	rs147077598
ensembl	rs147077598
geneview	rs147077598
scholar	rs147077598
google	rs147077598
pharmgkb	rs147077598
gwascentral	rs147077598
openSNP	rs147077598
23andMe	rs147077598
SNPshot	rs147077598
SNPdbe	rs147077598
MSV3d	rs147077598
GWAS Ctlg	rs147077598

Max Magnitude

5

Rare mutation leading (when present in two copies or in addition to another mutation) to hypomyelination with brainstem and spinal cord involvement and leg spasticity.[PMID 23643384 ]

See also: OMIM 603084

ClinVar
Risk	rs147077598(A;A) Rs147077598(C;C)
Alt	rs147077598(A;A) Rs147077598(C;C)
Reference	Rs147077598(G;G)
Significance	Pathogenic
Disease	Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Variation	info
Gene	DARS
CLNDBN	Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Reversed	0
HGVS	NC_000002.11:g.136664912G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000043687.4,