RGD:11613850 Rat Genome Database

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Variant: RGD:11613850 -  Homo sapiens

RGD ID: 11613850
RS ID: rs748512308
ClinVar ID: CV330591
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTPN11  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 112,944,283
GRCh38 12 112,506,479
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
LRG_614:g.92748C>T
NG_007459.1:g.92748C>T
NC_000012.12:g.112506479C>T
NC_000012.11:g.112944283C>T
More... 		01/13/2018 3 prime utr variant uncertain significance childhood <1 / 1 000 000 Female pseudo-Turner syndrome; LENTIGINOSIS, CARDIOMYOPATHIC; Multiple lentigines syndrome; Turner phenotype with normal karyotype; Turner Syndrome, Male
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PTPN11
Accession:XM_011538613
Location:3UTRS;EXON

Gene Symbol:PTPN11
Accession:NM_002834
Location:3UTRS;EXON

Gene Symbol:PTPN11
Accession:NM_001374625
Location:3UTRS;EXON

Gene Symbol:PTPN11
Accession:NM_001330437
Location:3UTRS;EXON

Gene Symbol:PTPN11
Accession:NM_080601
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000271962 CLINVAR
  RCV000307246 CLINVAR
  RCV000364128 CLINVAR
dbSNP (RS) rs748512308 CLINVAR
MedGen C0410530 CLINVAR
  C4551484 CLINVAR
  C4551602 CLINVAR
NCBI Gene PTPN11 CLINVAR
OMIM 151100 CLINVAR
  156250 CLINVAR
  163950 CLINVAR
  176876 CLINVAR
SNOMED CT 205481009 CLINVAR