Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057091

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057091(C;T)
Make rs1057091(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position6643023
GeneLOC102723801, MCPH1
is asnp
is mentioned by
dbSNPrs1057091
ebirs1057091
HLIrs1057091
Exacrs1057091
Varsomers1057091
Maprs1057091
PheGenIrs1057091
hapmaprs1057091
1000 genomesrs1057091
hgdprs1057091
ensemblrs1057091
gopubmedrs1057091
geneviewrs1057091
scholarrs1057091
googlers1057091
pharmgkbrs1057091
gwascentralrs1057091
openSNPrs1057091
23andMers1057091
23andMe allrs1057091
SNP Nexus

SNPshotrs1057091
SNPdbers1057091
MSV3drs1057091
GWAS Ctlgrs1057091
GMAF0.2254
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene MCPH1
allele T
frequency 0.283
sift TOLERATED
HuRef 1103652232396
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.



ClinVar
Risk rs1057091(T;T)
Alt rs1057091(T;T)
Reference rs1057091(C;C)
Significance Non-pathogenic
Disease Primary autosomal recessive microcephaly 1 not specified
Variation info
Gene MCPH1-AS1 MCPH1
CLNDBN Primary autosomal recessive microcephaly 1 not specified
Reversed 0
HGVS NC_000008.10:g.6500544C>T
CLNSRC ClinVar GeneReviews University of Chicago
CLNACC RCV000020901.1, RCV000146321.2,



GET Evidence
MCPH1-P828S
aa_change Pro828Ser
aa_change_short P828S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.261211
summary