RGD:405250206 Rat Genome Database

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Variant: RGD:405250206 -  Homo sapiens

RGD ID: 405250206
ClinVar ID: CV2997311
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MCPH1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 6,293,559
GRCh38 8 6,436,038
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001322045.2:c.220-10T>C
NM_001322043.2:c.316-10T>C
NM_001172574.2:c.322-10T>C
NM_001172575.2:c.322-10T>C
More... 		06/23/2023 intron variant likely benign none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003721559 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MCPH1 CLINVAR
OMIM 607117 CLINVAR