RGD:11051254 Rat Genome Database

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Variant: RGD:11051254 -  Homo sapiens

RGD ID: 11051254
RS ID: rs869312628
ClinVar ID: CV225663
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127887513  PPM1D  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 58,678,324
GRCh38 17 60,600,963
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_770:g.5771G>A
NG_023265.1:g.5771G>A
NC_000017.11:g.60600963G>A
NC_000017.10:g.58678324G>A
More... 		12/01/2015 intron variant likely benign Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PPM1D
Accession:NM_003620
Location:INTRON

Gene Symbol:PPM1D
Accession:XR_007065507
Location:INTRON;NON-CODING

Gene Symbol:PPM1D
Accession:XR_934577
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000209732 CLINVAR
dbSNP (RS) rs869312628 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene PPM1D CLINVAR
OMIM 605100 CLINVAR
SNOMED CT 699346009 CLINVAR