RGD:405225234 Rat Genome Database

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Variant: RGD:405225234 -  Homo sapiens

RGD ID: 405225234
ClinVar ID: CV3042127
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MCPH1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 6,338,253
GRCh38 8 6,480,732
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363980.2:c.1935+25480C>A
NM_001322042.2:c.1992C>A
NM_001363979.1:c.1992C>A
NM_001410916.1:c.1992C>A
More... 		06/28/2023 genic downstream transcript variant likely benign none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003710582 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MCPH1 CLINVAR
OMIM 607117 CLINVAR