RGD:11608383 Rat Genome Database

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Variant: RGD:11608383 -  Homo sapiens

RGD ID: 11608383
RS ID: rs369959435
ClinVar ID: CV321342
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CATSPER1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 65,786,386
GRCh38 11 66,018,915
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016285.1:g.12603T>C
NC_000011.10:g.66018915A>G
NC_000011.9:g.65786386A>G
NM_053054.4:c.2126-13T>C
More... 		06/14/2016 intron variant uncertain significance CATSPER-Related Male Infertility; MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CATSPER1
Accession:NM_053054
Location:INTRON

Gene Symbol:CATSPER1
Accession:XM_047426337
Location:INTRON

Gene Symbol:CATSPER1
Accession:XM_047426338
Location:INTRON

Gene Symbol:CATSPER1
Accession:XR_002957121
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000354269 CLINVAR
dbSNP (RS) rs369959435 CLINVAR
MedGen C2751811 CLINVAR
NCBI Gene CATSPER1 CLINVAR
OMIM 606389 CLINVAR
  612997 CLINVAR