RGD:8649289 Rat Genome Database

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Variant: RGD:8649289 -  Homo sapiens

RGD ID: 8649289
RS ID: rs141565234
ClinVar ID: CV49196
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SOS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 39,216,456
GRCh38 2 38,989,315
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
NG_007530.1:g.136149G>A
NC_000002.12:g.38989315C>T
NC_000002.11:g.39216456C>T
LRG_754:g.136149G>A
More... 		07/04/2021 intron variant|splice acceptor variant|splice-3 uncertain significance|not provided neonatal/infancy 6-9 / 10 000 AllHighlyPenetrant; Hereditary gingival fibromatosis, 1; NL/MGCLS; none provided; Noonan spectrum disorder; Noonan syndrome 4; NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS; rasopathies
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SOS1
Accession:XM_047445584
Location:INTRON

Gene Symbol:SOS1
Accession:NM_005633
Location:INTRON

Gene Symbol:SOS1
Accession:XM_047445581
Location:INTRON

Gene Symbol:SOS1
Accession:NM_001382394
Location:INTRON

Gene Symbol:SOS1
Accession:NM_001382395
Location:INTRON

Gene Symbol:SOS1
Accession:XM_047445583
Location:INTRON

Gene Symbol:SOS1
Accession:XM_011533064
Location:INTRON

Gene Symbol:SOS1
Accession:XM_047445582
Location:INTRON

Gene Symbol:SOS1
Accession:XM_047445585
Location:INTRON

Gene Symbol:SOS1
Accession:XM_047445586
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:24033266   PMID:24896146   PMID:25741868   PMID:26918529   PMID:28492532   PMID:29868112   PMID:29907801   PMID:30050098   PMID:30838730   PMID:31573083   PMID:36110220  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000106330 CLINVAR
  RCV000154847 CLINVAR
  RCV000536574 CLINVAR
  RCV000680312 CLINVAR
  RCV001813301 CLINVAR
  RCV002321499 CLINVAR
  RCV002477049 CLINVAR
  RCV003390719 CLINVAR
dbSNP (RS) rs141565234 CLINVAR
MedGen C1853120 CLINVAR
  C3661900 CLINVAR
  C4551558 CLINVAR
  C5555857 CLINVAR
  C5681679 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene SOS1 CLINVAR
OMIM 135300 CLINVAR
  163955 CLINVAR
  182530 CLINVAR
  610733 CLINVAR