RGD:11656450 Rat Genome Database

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Variant: RGD:11656450 -  Homo sapiens

RGD ID: 11656450
RS ID: rs886056022
ClinVar ID: CV286289
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SOS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 39,212,742
GRCh38 2 38,985,601
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_754t1:c.*223C>T
LRG_754:g.139863C>T
NG_007530.1:g.139863C>T
NC_000002.12:g.38985601G>A
More... 		01/13/2018 3 prime utr variant uncertain significance Hereditary gingival fibromatosis, 1; NL/MGCLS; NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SOS1
Accession:XM_047445581
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_047445585
Location:3UTRS;EXON

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

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

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

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

Gene Symbol:SOS1
Accession:XM_047445584
Location:INTRON

Gene Symbol:SOS1
Accession:XM_047445583
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000333787 CLINVAR
  RCV000385901 CLINVAR
dbSNP (RS) rs886056022 CLINVAR
MedGen C1853120 CLINVAR
  C4551558 CLINVAR
NCBI Gene SOS1 CLINVAR
OMIM 135300 CLINVAR
  163955 CLINVAR
  182530 CLINVAR
  610733 CLINVAR