rs113994152

Orientation

plus

Stabilized

plus

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

Make rs113994152(G;T)

Make rs113994152(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

75522000

Gene

TSEN54

is a	snp
is	mentioned by
dbSNP	rs113994152
dbSNP (classic)	rs113994152
ClinGen	rs113994152
ebi	rs113994152
HLI	rs113994152
Exac	rs113994152
Gnomad	rs113994152
Varsome	rs113994152
LitVar	rs113994152
Map	rs113994152
PheGenI	rs113994152
Biobank	rs113994152
1000 genomes	rs113994152
hgdp	rs113994152
ensembl	rs113994152
geneview	rs113994152
scholar	rs113994152
google	rs113994152
pharmgkb	rs113994152
gwascentral	rs113994152
openSNP	rs113994152
23andMe	rs113994152
SNPshot	rs113994152
SNPdbe	rs113994152
MSV3d	rs113994152
GWAS Ctlg	rs113994152

GMAF

0.0004591

Max Magnitude

0

OMIM	608755
Desc
Variant	0001
Related	also

ClinVar
Risk	rs113994152(T;T)
Alt	rs113994152(T;T)
Reference	Rs113994152(G;G)
Significance	Pathogenic
Disease	Pontocerebellar hypoplasia type 2A Pontocerebellar hypoplasia type 4 Olivopontocerebellar hypoplasia Pontocerebellar hypoplasia type 5 not provided Global developmental delay Microcephaly Cerebellar hypoplasia
Variation	info
Gene	TSEN54
CLNDBN	Pontocerebellar hypoplasia type 2A Pontocerebellar hypoplasia type 4 Olivopontocerebellar hypoplasia Pontocerebellar hypoplasia type 5 not provided Global developmental delay Microcephaly Cerebellar hypoplasia
Reversed	0
HGVS	NC_000017.10:g.73518081G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002201.4, RCV000002203.3, RCV000147790.1, RCV000157630.4, RCV000157631.3, RCV000224437.3, RCV000414963.1, RCV000415005.1,