RGD:402467625 Rat Genome Database

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Variant: RGD:402467625 -  Homo sapiens

RGD ID: 402467625
ClinVar ID: CV3015979
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNTN1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 41,374,694
GRCh38 12 40,980,892
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_175038.2:c.1772-17C>T
NM_001843.4:c.1805-17C>T
NG_012058.2:g.293337C>T
NC_000012.12:g.40980892C>T
More... 		08/16/2023 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CNTN1
Accession:NM_001843
Location:INTRON

Gene Symbol:CNTN1
Accession:NM_175038
Location:INTRON

Gene Symbol:CNTN1
Accession:NM_001256063
Location:INTRON

Gene Symbol:CNTN1
Accession:NM_001256064
Location:INTRON

Gene Symbol:CNTN1
Accession:XM_005268651
Location:INTRON

Gene Symbol:CNTN1
Accession:XM_006719241
Location:INTRON

Gene Symbol:CNTN1
Accession:XM_011537926
Location:INTRON

Gene Symbol:CNTN1
Accession:XM_011537927
Location:INTRON

Gene Symbol:CNTN1
Accession:XM_017018827
Location:INTRON

Gene Symbol:CNTN1
Accession:XM_017018826
Location:INTRON

Gene Symbol:CNTN1
Accession:XM_024448843
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003623225 CLINVAR
MedGen C2675527 CLINVAR
NCBI Gene CNTN1 CLINVAR
OMIM 600016 CLINVAR
  612540 CLINVAR