RGD:11652197 Rat Genome Database

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Variant: RGD:11652197 -  Homo sapiens

RGD ID: 11652197
RS ID: rs557610788
ClinVar ID: CV305338
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNTNAP2  LOC105375554  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 148,116,510
GRCh38 7 148,419,418
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NM_014141.6:c.*3802G>A
NG_007092.3:g.2308418G>A
NC_000007.14:g.148419418G>A
NC_000007.13:g.148116510G>A
More... 		06/14/2016 3 prime utr variant uncertain significance <1 / 1 000 000 Pitt-Hopkins-like syndrome 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CNTNAP2
Accession:NM_014141
Location:3UTRS;EXON

Gene Symbol:CNTNAP2
Accession:XM_017011950
Location:INTRON

Gene Symbol:LOC105375554
Accession:XR_007060576
Location:INTRON;NON-CODING

Gene Symbol:LOC105375554
Accession:XR_928093
Location:INTRON;NON-CODING

Gene Symbol:LOC105375554
Accession:XR_928094
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000303491 CLINVAR
  RCV000390919 CLINVAR
dbSNP (RS) rs557610788 CLINVAR
MedGen C2750246 CLINVAR
  C4751168 CLINVAR
NCBI Gene CNTNAP2 CLINVAR
OMIM 604569 CLINVAR
  610042 CLINVAR