RGD:12893887 Rat Genome Database

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Variant: RGD:12893887 -  Homo sapiens

RGD ID: 12893887
RS ID: rs1064796335
ClinVar ID: CV411328
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OTC  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 38,271,113
GRCh38 X 38,411,860
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000531.6:c.868-2A>T
NM_000531.5:c.868-2A>T
NG_008471.1:g.64378A>T
NC_000023.11:g.38411860A>T
More... 		02/08/2017 splice acceptor variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:OTC
Accession:XM_017029556
Location:EXON

Gene Symbol:OTC
Accession:NM_001407092
Location:INTRON

Gene Symbol:OTC
Accession:NM_000531
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000480612 CLINVAR
dbSNP (RS) rs1064796335 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene OTC CLINVAR
OMIM 300461 CLINVAR