RGD:12893691 Rat Genome Database

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Variant: RGD:12893691 -  Homo sapiens

RGD ID: 12893691
RS ID: rs1064793243
ClinVar ID: CV407990
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTEN  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 89,692,839
GRCh38 10 87,933,082
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_311:g.74644T>C
NG_007466.2:g.74644T>C
NC_000010.11:g.87933082T>C
NC_000010.10:g.89692839T>C
More... 		12/18/2018 5 prime utr variant|missense variant pathogenic|likely pathogenic Cancer breast; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Malignant breast neoplasm; Neoplastic Syndromes, Hereditary; none provided; PTEN Hamartomatous Tumour Syndrome; PTEN-related disorders; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PTEN
Accession:NM_001304718
Location:5UTRS;EXON

Gene Symbol:PTEN
Accession:NM_001304717
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 281

TRANSCRIPT MAY BE FAULTY. PLEASE CHECK WITH NCBI FOR CORRECTIONS
Amino Acid Sequence
(Calculated using NCBI transcript definition)
LERGGEAAAAAAAAAAAPGRGSESPVTISRAGNAGELVSPLLLPPTRRRRRLAHPGTRAGFKPPVRRRRTPRGPGSGGRR
RRQPFGGLFVFSPFRCRRCQASGC*GEAGPVAATIQQPPQQPLPGCGPEPSGGRARGISYRQVQSHFHPAEEAPPPAASA
ISLLLFLQPQAPRHDSHHQRDR*QKQKEISRGWIRLRLDLYLSKHYCYGISCRKT*RRIQEQY**CSKVFGFKA*KPLQD
IQSLC*KTL*HRQI*LQSCTISF*RP*PTTARTYQTLL*RS*PMAK*R*QSCCSNSL*SWKGTNWCNDMCIFITSGQIFK
GTRGPRFLWGSKDQRQKGSNYSQSEALCVLL*LPVKESSGL*TSGTVVSQDDV*NYSNVQWRNLQSSVCGLPAKGEDIFL
QFRTHTTGRQVHVL*VPSAVTCVW*YQSRVLPQTEQDAKKGQNVSLLGKYILHTRTRGNLRKSRKWKSM*SRNR*HLQYR
ACR**QGISSTYFNKK*S*QSK*RQSQPILFSKF*GEAVLHKNSRGAVKSRG*QFNFCNTRC**Q*T*SL*IF*HH*L*S
RE*TF**RSAYTNYKSL

Gene Symbol:PTEN
Accession:NM_000314
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVRFLDSKHKNHYKIYNLCAERHYDTAK
FNCRVAQYPFEDHNPPQLELIKPFCEDPDQWLSEDDNHVAAIHCKAGKGRTGVMICAYLLHRGKFLKAQEALDFYGEVRT
RDKKGVTIPSQRRYVYYYSYLLKNHLDYRPVALLFHKMMFETIPMFSGGTCNPQFVVCQLKVKIYSSNSGPTRREDKFMY
FEFPQPLPVCGDIKVEFFHKQNKMLKKDKMFHFWVNTFFIPGPEETSEKVENGSLCDQEIDSICSIERADNDKEYLVLTL
TKNDLDKANKDKANRYFSPNFKVKLYFTKTVEEPSNPEASSSTSVTPDVSDNEPDHYRYSDTTDSDPENEPFDEDQHTQI
TKV*
Variant Samples
Additional References at PubMed
PMID:17526801   PMID:20712882   PMID:23399955   PMID:25527629   PMID:27405757   PMID:28492532   PMID:29043291   PMID:29706350   PMID:29785012  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000479867 CLINVAR
  RCV000490832 CLINVAR
  RCV000688225 CLINVAR
  RCV001357264 CLINVAR
  RCV003449170 CLINVAR
dbSNP (RS) rs1064793243 CLINVAR
MedGen C0006142 CLINVAR
  C0027672 CLINVAR
  C1959582 CLINVAR
  C3661900 CLINVAR
  CN072330 CLINVAR
NCBI Gene PTEN CLINVAR
OMIM 158350 CLINVAR
  601728 CLINVAR
SNOMED CT 254837009 CLINVAR
  699346009 CLINVAR