rs121908345

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a mutation for megalencephalic leukoencephalopathy with subcortical cysts

Make rs121908345(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50080391

Gene

MLC1

is a	snp
is	mentioned by
dbSNP	rs121908345
dbSNP (classic)	rs121908345
ClinGen	rs121908345
ebi	rs121908345
HLI	rs121908345
Exac	rs121908345
Gnomad	rs121908345
Varsome	rs121908345
LitVar	rs121908345
Map	rs121908345
PheGenI	rs121908345
Biobank	rs121908345
1000 genomes	rs121908345
hgdp	rs121908345
ensembl	rs121908345
geneview	rs121908345
scholar	rs121908345
google	rs121908345
pharmgkb	rs121908345
gwascentral	rs121908345
openSNP	rs121908345
23andMe	rs121908345
SNPshot	rs121908345
SNPdbe	rs121908345
MSV3d	rs121908345
GWAS Ctlg	rs121908345

Max Magnitude

3

aka c.274C>T (p.Pro92Ser or P92S)

OMIM	605908
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121908345(T;T)
Alt	rs121908345(T;T)
Reference	Rs121908345(C;C)
Significance	Other
Disease	Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts
Variation	info
Gene	MLC1
CLNDBN	Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts
Reversed	1
HGVS	NC_000022.10:g.50518820G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004984.3, RCV000346105.1,