RGD:13494867 Rat Genome Database

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Variant: RGD:13494867 -  Homo sapiens

RGD ID: 13494867
RS ID: rs1555619391
ClinVar ID: CV478907
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NF1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 29,592,246
GRCh38 17 31,265,228
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001042492.2:c.4725-1G>A
LRG_214t1:c.4662-1G>A
LRG_214t2:c.4725-1G>A
NM_000267.3:c.4662-1G>A
More... 		03/15/2022 splice acceptor variant pathogenic|likely pathogenic Café-au-lait macules with pulmonary stenosis; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Juvenile myelomonocytic leukemia; LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC; Neoplastic Syndromes, Hereditary; Neurofibromatosis with Noonan phenotype; Neurofibromatosis, type 1; NEUROFIBROMATOSIS, TYPE I; NEUROFIBROMATOSIS, TYPE I, SOMATIC; Neurofibromatosis-Noonan syndrome; none provided; Peripheral type neurofibromatosis; Pulmonic stenosis with cafe-au-lait spots; Recklinghausen's disease; Tumor predisposition; Von Recklinghausen disease
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

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:23913538   PMID:25741868   PMID:28492532   PMID:31533651  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000571686 CLINVAR
  RCV001092509 CLINVAR
  RCV001219651 CLINVAR
  RCV002491129 CLINVAR
dbSNP (RS) rs1555619391 CLINVAR
MedGen C0027672 CLINVAR
  C0027831 CLINVAR
  C1834235 CLINVAR
  C3661900 CLINVAR
NCBI Gene NF1 CLINVAR
OMIM 162200 CLINVAR
  162210 CLINVAR
  193520 CLINVAR
  601321 CLINVAR
  607785 CLINVAR
  613113 CLINVAR
SNOMED CT 699346009 CLINVAR
  92824003 CLINVAR