RGD:12911600 Rat Genome Database

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Variant: RGD:12911600 -  Homo sapiens

RGD ID: 12911600
RS ID: rs1131691122
ClinVar ID: CV420790
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NF1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 29,556,484
GRCh38 17 31,229,466
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_214t1:c.2850+1G>T
NM_000267.3:c.2850+1G>T
LRG_214:g.139490G>T
NG_009018.1:g.139490G>T
More... 		02/03/2021 splice donor variant pathogenic|likely pathogenic Cancer predisposition; Cardiovascular phenotype; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; NEUROFIBROMATOSIS, TYPE I; NEUROFIBROMATOSIS, TYPE I, SOMATIC; none provided; 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_001042492
Location:INTRON

Gene Symbol:NF1
Accession:NM_000267
Location:INTRON

Gene Symbol:NF1
Accession:NM_001128147
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10712197   PMID:16199547   PMID:16944272   PMID:18546366   PMID:23913538   PMID:25480383   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000680816 CLINVAR
  RCV001374594 CLINVAR
  RCV002311246 CLINVAR
dbSNP (RS) rs1131691122 CLINVAR
MedGen C0027672 CLINVAR
  C0027831 CLINVAR
  C3661900 CLINVAR
NCBI Gene NF1 CLINVAR
OMIM 162200 CLINVAR
  613113 CLINVAR
SNOMED CT 699346009 CLINVAR
  92824003 CLINVAR