RGD:8696948 Rat Genome Database

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Variant: RGD:8696948 -  Homo sapiens

RGD ID: 8696948
RS ID: rs556444929
ClinVar ID: CV151052
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NF1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 29,509,688
GRCh38 17 31,182,670
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_214t1:c.888+5G>A
LRG_214t2:c.888+5G>A
NM_000267.3:c.888+5G>A
LRG_214:g.92694G>A
More... 		04/25/2021 intron variant benign|likely benign|uncertain significance infancy 1:3,000 AllHighlyPenetrant; 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_000267
Location:INTRON

Gene Symbol:NF1
Accession:NM_001042492
Location:INTRON

Gene Symbol:NF1
Accession:NM_001128147
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10678181   PMID:23460398   PMID:27069254   PMID:28492532   PMID:29872168  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000129823 CLINVAR
  RCV000459107 CLINVAR
  RCV001420819 CLINVAR
  RCV001553065 CLINVAR
  RCV002371976 CLINVAR
dbSNP (RS) rs556444929 CLINVAR
MedGen C0027672 CLINVAR
  C0027831 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene NF1 CLINVAR
OMIM 162200 CLINVAR
  613113 CLINVAR
SNOMED CT 699346009 CLINVAR
  92824003 CLINVAR