RGD:12845810 Rat Genome Database

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Variant: RGD:12845810 -  Homo sapiens

RGD ID: 12845810
RS ID: rs1057524700
ClinVar ID: CV378576
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PPM1D  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 58,740,362
GRCh38 17 60,663,001
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_770t1:c.1267G>T
LRG_770:g.67809G>T
NG_023265.1:g.67809G>T
NC_000017.11:g.60663001G>T
More... 		05/04/2022 nonsense pathogenic|likely pathogenic|uncertain significance Breast cancer, familial; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PPM1D
Accession:NM_003620
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 423
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLYSLGVSVFSDQGGRKYMEDVTQIVVEPEPTAEEKPSPRRSLSQPLPPRPSPAALPGGEVSGKGPAVAAREARDPLP
DAGASPAPSRCCRRRSSVAFFAVCDGHGGREAAQFAREHLWGFIKKQKGFTSSEPAKVCAAIRKGFLACHLAMWKKLAEW
PKTMTGLPSTSGTTASVVIIRGMKMYVAHVGDSGVVLGIQDDPKDDFVRAVEVTQDHKPELPKERERIEGLGGSVMNKSG
VNRVVWKRPRLTHNGPVRRSTVIDQIPFLAVARALGDLWSYDFFSGEFVVSPEPDTSVHTLDPQKHKYIILGSDGLWNMI
PPQDAISMCQDQEEKKYLMGEHGQSCAKMLVNRALGRWRQRMLRADNTSAIVICISPEVDNQGNFTNEDELYLNLTDSPS
YNSQETCVMTPSPCSTPPVKSL*EDPWPRVNSKDHIPALVRSNAFSENFLEVSAEIARENVQGVVIPSKDPEPLEENCAK
ALTLRIHDSLNNSLPIGLVPTNSTNTVMDQKNLKMSTPGQMKAQEIERTPPTNFKRTLEESNSGPLMKKHRRNGLSRSSG
AQPASLPTTSQRKNSVKLTMRRRLRGQKKIGNPLLHQHRKTVCVC*

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000440479 CLINVAR
  RCV002248662 CLINVAR
dbSNP (RS) rs1057524700 CLINVAR
MedGen C0346153 CLINVAR
  CN517202 CLINVAR
NCBI Gene PPM1D CLINVAR
OMIM 114480 CLINVAR
  605100 CLINVAR
SNOMED CT 254843006 CLINVAR