RGD:405294109 Rat Genome Database

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Variant: RGD:405294109 -  Homo sapiens

RGD ID: 405294109
ClinVar ID: CV3203505
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOCAD  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 20,720,369
GRCh38 9 20,720,370
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001375567.1:c.133-10T>G
NM_001375568.1:c.133-10T>G
NM_001375570.1:c.133-10T>G
NM_017794.5:c.133-10T>G
More... 		06/20/2019 intron variant likely benign FOCAD-related condition

Variant Details
Variant Transcripts
Gene Symbol:FOCAD
Accession:NM_017794
Location:INTRON

Gene Symbol:FOCAD
Accession:NM_001375567
Location:INTRON

Gene Symbol:FOCAD
Accession:XM_017014852
Location:INTRON

Gene Symbol:FOCAD
Accession:XM_047423535
Location:INTRON

Gene Symbol:FOCAD
Accession:XM_047423536
Location:INTRON

Gene Symbol:FOCAD
Accession:XM_017014859
Location:INTRON

Gene Symbol:FOCAD
Accession:XM_024447586
Location:INTRON

Gene Symbol:FOCAD
Accession:NM_001375570
Location:INTRON

Gene Symbol:FOCAD
Accession:XM_047423534
Location:INTRON

Gene Symbol:FOCAD
Accession:XM_047423532
Location:INTRON

Gene Symbol:FOCAD
Accession:XM_047423538
Location:INTRON

Gene Symbol:FOCAD
Accession:XM_047423540
Location:INTRON

Gene Symbol:FOCAD
Accession:XM_017014855
Location:INTRON

Gene Symbol:FOCAD
Accession:XM_047423539
Location:INTRON

Gene Symbol:FOCAD
Accession:XM_047423533
Location:INTRON

Gene Symbol:FOCAD
Accession:XM_017014856
Location:INTRON

Gene Symbol:FOCAD
Accession:XM_047423531
Location:INTRON

Gene Symbol:FOCAD
Accession:XM_047423537
Location:INTRON

Gene Symbol:FOCAD
Accession:NM_001375568
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003934034 CLINVAR
NCBI Gene FOCAD CLINVAR
OMIM 614606 CLINVAR