rs202247811

Orientation

plus

Stabilized

plus

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

Make rs202247811(-;-)

Make rs202247811(-;C)

Reference

GRCh38 38.1/141

Chromosome

4

Position

55965785

Gene

CEP135

is a	snp
is	mentioned by
dbSNP	rs202247811
dbSNP (classic)	rs202247811
ClinGen	rs202247811
ebi	rs202247811
HLI	rs202247811
Exac	rs202247811
Gnomad	rs202247811
Varsome	rs202247811
LitVar	rs202247811
Map	rs202247811
PheGenI	rs202247811
Biobank	rs202247811
1000 genomes	rs202247811
hgdp	rs202247811
ensembl	rs202247811
geneview	rs202247811
scholar	rs202247811
google	rs202247811
pharmgkb	rs202247811
gwascentral	rs202247811
openSNP	rs202247811
23andMe	rs202247811
SNPshot	rs202247811
SNPdbe	rs202247811
MSV3d	rs202247811
GWAS Ctlg	rs202247811

Max Magnitude

0

ClinVar
Risk	rs202247811(-;-)
Alt	rs202247811(-;-)
Reference	Rs202247811(C;C)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 8
Variation	info
Gene	CEP135
CLNDBN	Primary autosomal recessive microcephaly 8
Reversed	0
HGVS	NC_000004.11:g.56831951delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024354.5,

[PMID 22521416] A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.