RGD:405178059 Rat Genome Database

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Variant: RGD:405178059 -  Homo sapiens

RGD ID: 405178059
ClinVar ID: CV2913010
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MCPH1  MCPH1-AS1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 6,479,181
GRCh38 8 6,621,660
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.2142A>G
NM_001322042.2:c.2421A>G
NM_001363979.1:c.2421A>G
NM_001410917.1:c.2421A>G
More... 		08/07/2023 synonymous variant likely benign none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003563712 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MCPH1 CLINVAR
  MCPH1-AS1 CLINVAR
OMIM 607117 CLINVAR