RGD:11640741 Rat Genome Database

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Variant: RGD:11640741 -  Homo sapiens

RGD ID: 11640741
RS ID: rs369251473
ClinVar ID: CV268905
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCNH  RASA1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 86,685,202
GRCh38 5 87,389,385
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_011650.1:g.126052C>T
NC_000005.10:g.87389385C>T
NM_002890.3:c.2926-8C>T
NC_000005.9:g.86685202C>T
More... 		12/31/2019 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance infancy Capillary malformation-arteriovenous malformation; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RASA1
Accession:NM_022650
Location:INTRON

Gene Symbol:CCNH
Accession:NM_001363539
Location:INTRON

Gene Symbol:CCNH
Accession:NM_001364076
Location:INTRON

Gene Symbol:RASA1
Accession:NM_002890
Location:INTRON

Gene Symbol:CCNH
Accession:NM_001239
Location:INTRON

Gene Symbol:CCNH
Accession:NM_001199189
Location:INTRON

Gene Symbol:CCNH
Accession:XM_047417863
Location:INTRON

Gene Symbol:CCNH
Accession:NM_001364075
Location:INTRON

Gene Symbol:CCNH
Accession:NR_157070
Location:INTRON;NON-CODING

Gene Symbol:CCNH
Accession:NR_157069
Location:INTRON;NON-CODING

Gene Symbol:CCNH
Accession:NR_157068
Location:INTRON;NON-CODING

Gene Symbol:CCNH
Accession:NR_157071
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000344207 CLINVAR
  RCV001089068 CLINVAR
dbSNP (RS) rs369251473 CLINVAR
MedGen C1842180 CLINVAR
  C3661900 CLINVAR
NCBI Gene CCNH CLINVAR
  RASA1 CLINVAR
OMIM 139150 CLINVAR
  601953 CLINVAR