RGD:9853964 Rat Genome Database

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Variant: RGD:9853964 -  Homo sapiens

RGD ID: 9853964
RS ID: rs149772796
ClinVar ID: CV183021
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTEN  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 89,692,777
GRCh38 10 87,933,020
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
LRG_311:g.74582A>G
NG_007466.2:g.74582A>G
NC_000010.11:g.87933020A>G
NC_000010.10:g.89692777A>G
More...
04/05/2023 5 prime utr variant|synonymous variant likely benign|conflicting interpretations of pathogenicity 1 in 200,000 AllHighlyPenetrant; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; PTEN Hamartomatous Tumour Syndrome; PTEN-related disorders; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:PTEN
Accession:NM_000314
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 87
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVRFLDSKHKNHYKIYNLCAERHYDTAK
FNCRVAQYPFEDHNPPQLELIKPFCEDLDQWLSEDDNHVAAIHCKAGKGRTGVMICAYLLHRGKFLKAQEALDFYGEVRT
RDKKGVTIPSQRRYVYYYSYLLKNHLDYRPVALLFHKMMFETIPMFSGGTCNPQFVVCQLKVKIYSSNSGPTRREDKFMY
FEFPQPLPVCGDIKVEFFHKQNKMLKKDKMFHFWVNTFFIPGPEETSEKVENGSLCDQEIDSICSIERADNDKEYLVLTL
TKNDLDKANKDKANRYFSPNFKVKLYFTKTVEEPSNPEASSSTSVTPDVSDNEPDHYRYSDTTDSDPENEPFDEDQHTQI
TKV*

Gene Symbol:PTEN
Accession:NM_001304717
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 261

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*LQSCTVSF*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

Variant Samples
Additional References at PubMed
PMID:17873882   PMID:19340001   PMID:19458356   PMID:19829307   PMID:22491738   PMID:23349303   PMID:25741868   PMID:26773036   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000166821 CLINVAR
  RCV000412378 CLINVAR
  RCV000545595 CLINVAR
  RCV000612380 CLINVAR
dbSNP (RS) rs149772796 CLINVAR
MedGen C0027672 CLINVAR
  C1959582 CLINVAR
  CN072330 CLINVAR
  CN169374 CLINVAR
NCBI Gene PTEN CLINVAR
OMIM 158350 CLINVAR
  601728 CLINVAR
SNOMED CT 699346009 CLINVAR