RGD:156386233 Rat Genome Database

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Variant: RGD:156386233 -  Homo sapiens

RGD ID: 156386233
ClinVar ID: CV1979776
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNTN1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 41,303,911
GRCh38 12 40,910,109
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.61+1616A>G
NM_001256063.2:c.94+4A>G
NM_001256064.2:c.94+4A>G
NM_001843.4:c.94+4A>G
More... 		05/25/2022 intron variant uncertain significance
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:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002604313 CLINVAR
MedGen C2675527 CLINVAR
NCBI Gene CNTN1 CLINVAR
OMIM 600016 CLINVAR
  612540 CLINVAR