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rs202247811

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs202247811(-;-)
Make rs202247811(-;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position55965785
GeneCEP135
is asnp
is mentioned by
dbSNPrs202247811
ebirs202247811
HLIrs202247811
Exacrs202247811
Varsomers202247811
Maprs202247811
PheGenIrs202247811
hapmaprs202247811
1000 genomesrs202247811
hgdprs202247811
ensemblrs202247811
gopubmedrs202247811
geneviewrs202247811
scholarrs202247811
googlers202247811
pharmgkbrs202247811
gwascentralrs202247811
openSNPrs202247811
23andMers202247811
23andMe allrs202247811
SNP Nexus

SNPshotrs202247811
SNPdbers202247811
MSV3drs202247811
GWAS Ctlgrs202247811
Max Magnitude0
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 RCV000024354.4,


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