RGD:405215647 Rat Genome Database

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Variant: RGD:405215647 -  Homo sapiens

RGD ID: 405215647
ClinVar ID: CV2967789
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MCPH1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 6,301,897
GRCh38 8 6,444,376
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001410917.1:c.671-17C>T
NM_024596.5:c.671-17C>T
NG_016619.3:g.42751C>T
NG_016619.2:g.42785C>T
More... 		10/13/2023 intron variant likely benign none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003679922 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MCPH1 CLINVAR
OMIM 607117 CLINVAR