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rs2442513

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(T;T) 0
Make rs2442513(A;A)
Make rs2442513(A;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position6439029
GeneMCPH1
is asnp
is mentioned by
dbSNPrs2442513
ebirs2442513
HLIrs2442513
Exacrs2442513
Varsomers2442513
Maprs2442513
PheGenIrs2442513
hapmaprs2442513
1000 genomesrs2442513
hgdprs2442513
ensemblrs2442513
gopubmedrs2442513
geneviewrs2442513
scholarrs2442513
googlers2442513
pharmgkbrs2442513
gwascentralrs2442513
openSNPrs2442513
23andMers2442513
23andMe allrs2442513
SNP Nexus

SNPshotrs2442513
SNPdbers2442513
MSV3drs2442513
GWAS Ctlgrs2442513
GMAF0.07117
Max Magnitude0
? (A;A) (A;C) (C;C) 28


Venter snp
Source plos
Gene MCPH1
allele T
frequency 0.983
sift AFFECT FUNCTION
HuRef 1103652231650
Disease Association Defects in MCPH1 are a cause of premature chromosome condensation with microcephaly and mental retardation (PCC syndrome) (MIM:606858). PCC syndrome is a disorder of microcephaly, short stature and misregulated chromosome condensation. Patients with this condition have a high number (10%-15%) of prophase-like cells in routine cytogenetic preparations and have poor-quality metaphase G-banding.



GET Evidence
MCPH1-R171S
aa_change Arg171Ser
aa_change_short R171S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.924117
summary



ClinVar
Risk rs2442513(A;A)
Alt rs2442513(A;A)
Reference rs2442513(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene MCPH1
CLNDBN not specified
Reversed 1
HGVS NC_000008.10:g.6296550G\x3d
CLNSRC ClinVar GeneDx
CLNACC RCV000194980.2,