RGD:405734641 Rat Genome Database

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Variant: RGD:405734641 -  Homo sapiens

RGD ID: 405734641
ClinVar ID: CV3370167
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OCM  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 5,922,226
GRCh38 7 5,882,595
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001097622.2:c.164A>G
NM_001391990.1:c.164A>G
NM_001391991.1:c.50A>G
NC_000007.14:g.5882595A>G
More... 		10/02/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:OCM
Accession:NM_001097622
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSITDVLSADDIAAALQECRDPDTFEPQKFFQTSGLSKMSANQVKDVFRFIDNDRSGYLDEEELKFFLQKFESGARELTE
SETKSLMAAADNDGDGKIGAEEFQEMVHS*

Gene Symbol:OCM
Accession:NM_001391990
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSITDVLSADDIAAALQECRDPDTFEPQKFFQTSGLSKMSANQVKDVFRFIDNDRSGYLDEEELKFFLQKFESGARELTE
SETKSLMAAADNDGDGKIGAEEFQEMVHS*

Gene Symbol:OCM
Accession:NM_001391991
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSANQVKDVFRFIDNDRSGYLDEEELKFFLQKFESGARELTESETKSLMAAADNDGDGKIGAEEFQEMVHS*

Gene Symbol:OCM
Accession:XM_047420752
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSANQVKDVFRFIDNDRSGYLDEEELKFFLQKFESGARELTESETKSLMAAADNDGDGKIGAEEFQEMVHS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004496762 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene OCM CLINVAR
OMIM 164795 CLINVAR