RGD:404991211 Rat Genome Database

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Variant: RGD:404991211 -  Homo sapiens

RGD ID: 404991211
ClinVar ID: CV3176212
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MCPH1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 6,301,899
GRCh38 8 6,444,378
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001172575.2:c.527-15G>A
NM_001322045.2:c.569-15G>A
NM_001322043.2:c.665-15G>A
NM_001172574.2:c.671-15G>A
More... 		01/28/2024 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MCPH1
Accession:NM_001363979
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_017013832
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001363980
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001322043
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_011534757
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_011534758
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_024596
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001172575
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_011534756
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001410916
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001322042
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001410917
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001322045
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_017013829
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001172574
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_047422233
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_017013833
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_047422234
Location:INTRON

Gene Symbol:MCPH1
Accession:NR_136159
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003881537 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MCPH1 CLINVAR
OMIM 607117 CLINVAR