RGD:40887802 Rat Genome Database

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Variant: RGD:40887802 -  Homo sapiens

RGD ID: 40887802
RS ID: rs1761341362
ClinVar ID: CV973489
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCNH  RASA1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 86,672,383
GRCh38 5 87,376,566
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.1653+1G>T
NM_002890.2:c.2184+1G>T
NC_000005.9:g.86672383G>T
NC_000005.10:g.87376566G>T
More... 		02/05/2018 intron variant pathogenic
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:CCNH
Accession:NM_001363539
Location:INTRON

Gene Symbol:CCNH
Accession:NM_001199189
Location:INTRON

Gene Symbol:CCNH
Accession:NM_001364076
Location:INTRON

Gene Symbol:RASA1
Accession:NM_022650
Location:INTRON

Gene Symbol:CCNH
Accession:NM_001364075
Location:INTRON

Gene Symbol:CCNH
Accession:NM_001239
Location:INTRON

Gene Symbol:CCNH
Accession:XM_047417863
Location:INTRON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001267390 CLINVAR
dbSNP (RS) rs1761341362 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene CCNH CLINVAR
  RASA1 CLINVAR
OMIM 139150 CLINVAR
  601953 CLINVAR