RGD:40903317 Rat Genome Database

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Variant: RGD:40903317 -  Homo sapiens

RGD ID: 40903317
RS ID: rs1759083657
ClinVar ID: CV975858
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCNH  RASA1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 86,645,030
GRCh38 5 87,349,213
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.572-1G>T
NM_001364075.2:c.934-36418C>A
NG_011650.1:g.85880G>T
NC_000005.10:g.87349213G>T
More... 		11/11/2020 intron variant pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CCNH
Accession:NM_001199189
Location:INTRON

Gene Symbol:CCNH
Accession:NM_001363539
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:XM_047417863
Location:INTRON

Gene Symbol:RASA1
Accession:NM_002890
Location:INTRON

Gene Symbol:CCNH
Accession:NM_001239
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001269300 CLINVAR
dbSNP (RS) rs1759083657 CLINVAR
MedGen C4747394 CLINVAR
NCBI Gene CCNH CLINVAR
  RASA1 CLINVAR
OMIM 139150 CLINVAR
  601953 CLINVAR
  608354 CLINVAR