RGD:13503050 Rat Genome Database

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Variant: RGD:13503050 -  Homo sapiens

RGD ID: 13503050
RS ID: rs1555618489
ClinVar ID: CV478184
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NF1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 29,585,360
GRCh38 17 31,258,342
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_214t1:c.4111-2A>G
NM_000267.3:c.4111-2A>G
LRG_214:g.168366A>G
NG_009018.1:g.168366A>G
More... 		03/15/2022 splice acceptor variant pathogenic|likely pathogenic 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_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:16138229   PMID:16199547   PMID:19221814   PMID:22155606   PMID:23913538   PMID:25741868   PMID:28492532   PMID:29673180   PMID:33231931  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000632344 CLINVAR
  RCV002317172 CLINVAR
dbSNP (RS) rs1555618489 CLINVAR
MedGen C0027672 CLINVAR
  C0027831 CLINVAR
NCBI Gene NF1 CLINVAR
OMIM 162200 CLINVAR
  613113 CLINVAR
SNOMED CT 699346009 CLINVAR
  92824003 CLINVAR