RGD:8597676 Rat Genome Database

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Variant: RGD:8597676 -  Homo sapiens

RGD ID: 8597676
RS ID: rs121909224
ClinVar ID: CV22858
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTEN  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 89,692,904
GRCh38 10 87,933,147
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_311:g.74709C>T
NG_007466.2:g.74709C>T
NC_000010.11:g.87933147C>T
NC_000010.10:g.89692904C>T
More... 		01/25/2023 5 prime utr variant|nonsense|stop-gain pathogenic|likely pathogenic neonatal/infancy 1 in 200,000|<1 / 1 000 000 Abnormality of cardiovascular system morphology; Brain neoplasm; Brain Neoplasms; Brain tumour; Cancer predisposition; Cowden syndrome 1; Familial meningioma; Glioma susceptibility 2; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Macrocephaly/autism syndrome; Malignant tumor of prostate; Malignant tumor of stomach; Meningioma, familial, susceptibility to; Neoplastic Syndromes, Hereditary; none provided; OVARIAN CANCER, SOMATIC; Ovarian neoplasm; Ovarian Neoplasms; Ovarian tumor; Prostate cancer; PTEN Hamartomatous Tumour Syndrome; PTEN-related disorders; Rhabdomyosarcoma (disease); Stomach cancer; Tumor predisposition
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: T to M (nonsynonymous)
Amino Acid Position: 303

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*SWKGMNWCNDMCIFITSGQIFK
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: R to * (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVRFLDSKHKNHYKIYNLCAERHYDTAK
FNCRVAQYPFEDHNPPQLELIKPFCEDLDQWLSEDDNHVAAIHCKAGKG*TGVMICAYLLHRGKFLKAQEALDFYGEVRT
RDKKGVTIPSQRRYVYYYSYLLKNHLDYRPVALLFHKMMFETIPMFSGGTCNPQFVVCQLKVKIYSSNSGPTRREDKFMY
FEFPQPLPVCGDIKVEFFHKQNKMLKKDKMFHFWVNTFFIPGPEETSEKVENGSLCDQEIDSICSIERADNDKEYLVLTL
TKNDLDKANKDKANRYFSPNFKVKLYFTKTVEEPSNPEASSSTSVTPDVSDNEPDHYRYSDTTDSDPENEPFDEDQHTQI
TKV*
Variant Samples
Additional References at PubMed
PMID:9259288   PMID:9467011   PMID:9856571   PMID:10848731   PMID:10923032   PMID:11274365   PMID:11332402   PMID:11504908   PMID:11918710   PMID:16773562   PMID:17286265   PMID:18767981  
PMID:20085938   PMID:21194675   PMID:21956414   PMID:22266152   PMID:22381246   PMID:23335809   PMID:23470840   PMID:23764071   PMID:23934601   PMID:24033266   PMID:24345843   PMID:25157968  
PMID:25741868   PMID:26467025   PMID:28492532   PMID:28526761   PMID:28655553   PMID:29594054   PMID:30614812   PMID:30659124   PMID:33083010   PMID:33372952   PMID:36988593  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000008263 CLINVAR
  RCV000008265 CLINVAR
  RCV000078615 CLINVAR
  RCV000132187 CLINVAR
  RCV000199099 CLINVAR
  RCV000424529 CLINVAR
  RCV000443514 CLINVAR
  RCV001257555 CLINVAR
  RCV001327978 CLINVAR
  RCV001542771 CLINVAR
  RCV002476944 CLINVAR
  RCV003162218 CLINVAR
  RCV003326115 CLINVAR
  RCV003934809 CLINVAR
dbSNP (RS) rs121909224 CLINVAR
MedGen C0006118 CLINVAR
  C0024623 CLINVAR
  C0027672 CLINVAR
  C0035412 CLINVAR
  C0919267 CLINVAR
  C1854416 CLINVAR
  C1959582 CLINVAR
  C2751642 CLINVAR
  C3661900 CLINVAR
  C4049796 CLINVAR
  CN072330 CLINVAR
NCBI Gene PTEN CLINVAR
OMIM 158350 CLINVAR
  167000 CLINVAR
  176807 CLINVAR
  601728 CLINVAR
  605309 CLINVAR
  607174 CLINVAR
  613028 CLINVAR
  613659 CLINVAR
OMIM Allele 601728.0007 CLINVAR
SNOMED CT 123843001 CLINVAR
  126952004 CLINVAR
  363349007 CLINVAR
  399068003 CLINVAR
  699346009 CLINVAR