RGD:28888873 Rat Genome Database

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Variant: RGD:28888873 -  Homo sapiens

RGD ID: 28888873
RS ID: rs572880679
ClinVar ID: CV884904
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SOS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 39,212,406
GRCh38 2 38,985,265
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_754:g.140199C>T
NG_007530.1:g.140199C>T
NC_000002.12:g.38985265G>A
NC_000002.11:g.39212406G>A
More... 		01/13/2018 3 prime utr variant uncertain significance Hereditary gingival fibromatosis, 1; NL/MGCLS; Noonan syndrome 4; NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SOS1
Accession:XM_047445583
Location:3UTRS;EXON

Gene Symbol:SOS1
Accession:XM_047445582
Location:3UTRS;EXON

Gene Symbol:SOS1
Accession:XM_011533064
Location:3UTRS;EXON

Gene Symbol:SOS1
Accession:XM_047445581
Location:3UTRS;EXON

Gene Symbol:SOS1
Accession:XM_047445584
Location:3UTRS;EXON

Gene Symbol:SOS1
Accession:NM_001382395
Location:3UTRS;EXON

Gene Symbol:SOS1
Accession:NM_005633
Location:3UTRS;EXON

Gene Symbol:SOS1
Accession:NM_001382394
Location:3UTRS;EXON

Gene Symbol:SOS1
Accession:XM_047445586
Location:3UTRS;EXON

Gene Symbol:SOS1
Accession:XM_047445585
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001138519 CLINVAR
  RCV001138520 CLINVAR
  RCV002480518 CLINVAR
dbSNP (RS) rs572880679 CLINVAR
MedGen C1853120 CLINVAR
  C4551558 CLINVAR
NCBI Gene SOS1 CLINVAR
OMIM 135300 CLINVAR
  163955 CLINVAR
  182530 CLINVAR
  610733 CLINVAR