RGD:13521776 Rat Genome Database

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Variant: RGD:13521776 -  Homo sapiens

RGD ID: 13521776
RS ID: rs746958309
ClinVar ID: CV487580
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTPN11  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 112,924,439
GRCh38 12 112,486,635
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_614:g.72904A>G
NG_007459.1:g.72904A>G
NC_000012.12:g.112486635A>G
NC_000012.11:g.112924439A>G
More...
01/12/2018 3 prime utr variant|intron variant uncertain significance Female pseudo-Turner syndrome; LENTIGINOSIS, CARDIOMYOPATHIC; MULTIPLE LENTIGINES SYNDROME; none provided; Turner phenotype with normal karyotype; Turner Syndrome, Male
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PTPN11
Accession:NM_080601
Location:3UTRS;EXON

Gene Symbol:PTPN11
Accession:NM_002834
Location:INTRON

Gene Symbol:PTPN11
Accession:XM_011538613
Location:INTRON

Gene Symbol:PTPN11
Accession:NM_001330437
Location:INTRON

Gene Symbol:PTPN11
Accession:NM_001374625
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000590231 CLINVAR
  RCV001113592 CLINVAR
  RCV001113593 CLINVAR
  RCV001113594 CLINVAR
dbSNP (RS) rs746958309 CLINVAR
MedGen C0410530 CLINVAR
  C4551484 CLINVAR
  C4551602 CLINVAR
  CN517202 CLINVAR
NCBI Gene PTPN11 CLINVAR
OMIM 151100 CLINVAR
  156250 CLINVAR
  163950 CLINVAR
  176876 CLINVAR
SNOMED CT 205481009 CLINVAR