RGD:151747216 Rat Genome Database

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Variant: RGD:151747216 -  Homo sapiens

RGD ID: 151747216
RS ID: rs199727062
ClinVar ID: CV1371369
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SOS1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 39,241,990
GRCh38 2 39,014,849
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001382394.1:c.1838-3T>C
NM_001382395.1:c.1859-3T>C
NM_005633.4:c.1859-3T>C
LRG_754:g.110615T>C
More... 		03/23/2021 intron variant uncertain significance Hereditary gingival fibromatosis, 1; NL/MGCLS; Noonan spectrum disorder; NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS; rasopathies
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SOS1
Accession:XM_047445583
Location:INTRON

Gene Symbol:SOS1
Accession:XM_047445585
Location:INTRON

Gene Symbol:SOS1
Accession:XM_047445582
Location:INTRON

Gene Symbol:SOS1
Accession:NM_001382394
Location:INTRON

Gene Symbol:SOS1
Accession:XM_047445581
Location:INTRON

Gene Symbol:SOS1
Accession:XM_011533064
Location:INTRON

Gene Symbol:SOS1
Accession:NM_005633
Location:INTRON

Gene Symbol:SOS1
Accession:NM_001382395
Location:INTRON

Gene Symbol:SOS1
Accession:XM_047445586
Location:INTRON

Gene Symbol:SOS1
Accession:XM_047445584
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001947735 CLINVAR
  RCV002407073 CLINVAR
  RCV002468355 CLINVAR
  RCV002468356 CLINVAR
dbSNP (RS) rs199727062 CLINVAR
MedGen C1853120 CLINVAR
  C4551558 CLINVAR
  C5555857 CLINVAR
  CN230736 CLINVAR
NCBI Gene SOS1 CLINVAR
OMIM 135300 CLINVAR
  163955 CLINVAR
  182530 CLINVAR
  610733 CLINVAR