rs202247811
From SNPedia
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 |
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.