RGD:13475416 Rat Genome Database

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Variant: RGD:13475416 -  Homo sapiens

RGD ID: 13475416
RS ID: rs375188075
ClinVar ID: CV478070
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NF1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 29,508,437
GRCh38 17 31,181,419
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_214:g.91443C>G
NM_000267.3:c.587-3C>G
NC_000017.11:g.31181419C>G
NM_001042492.3:c.587-3C>G
More... 		01/20/2020 intron variant pathogenic|uncertain significance Cancer predisposition; Cardiovascular phenotype; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; NEUROFIBROMATOSIS, TYPE I; NEUROFIBROMATOSIS, TYPE I, SOMATIC; Peripheral type neurofibromatosis; Recklinghausen's disease; Tumor predisposition; Von Recklinghausen disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NF1
Accession:NM_001128147
Location:INTRON

Gene Symbol:NF1
Accession:NM_001042492
Location:INTRON

Gene Symbol:NF1
Accession:NM_000267
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9783703   PMID:25741868   PMID:32126153  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001007751 CLINVAR
  RCV002316658 CLINVAR
dbSNP (RS) rs375188075 CLINVAR
MedGen C0027672 CLINVAR
  C0027831 CLINVAR
NCBI Gene NF1 CLINVAR
OMIM 162200 CLINVAR
  613113 CLINVAR
SNOMED CT 699346009 CLINVAR
  92824003 CLINVAR