RGD:152048986 Rat Genome Database

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Variant: RGD:152048986 -  Homo sapiens

RGD ID: 152048986
RS ID: rs1423456816
ClinVar ID: CV1575316
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCNH  RASA1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 86,674,207
GRCh38 5 87,378,390
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_022650.3:c.1814-6G>A
NM_002890.3:c.2345-6G>A
NM_001364075.2:c.933+16654C>T
NG_011650.1:g.115057G>A
More... 		03/21/2021 intron variant likely benign Capillary malformation-arteriovenous malformation
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RASA1
Accession:NM_002890
Location:INTRON

Gene Symbol:CCNH
Accession:XM_047417863
Location:INTRON

Gene Symbol:CCNH
Accession:NM_001199189
Location:INTRON

Gene Symbol:CCNH
Accession:NM_001363539
Location:INTRON

Gene Symbol:CCNH
Accession:NM_001239
Location:INTRON

Gene Symbol:CCNH
Accession:NM_001364075
Location:INTRON

Gene Symbol:RASA1
Accession:NM_022650
Location:INTRON

Gene Symbol:CCNH
Accession:NM_001364076
Location:INTRON

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002110524 CLINVAR
dbSNP (RS) rs1423456816 CLINVAR
MedGen C1842180 CLINVAR
NCBI Gene CCNH CLINVAR
  RASA1 CLINVAR
OMIM 139150 CLINVAR
  601953 CLINVAR