RGD:12911286 Rat Genome Database

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Variant: RGD:12911286 -  Homo sapiens

RGD ID: 12911286
RS ID: rs1085308042
ClinVar ID: CV416935
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTEN  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 89,653,833
GRCh38 10 87,894,076
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000314.8:c.131G>A
LRG_311:g.35638G>A
NG_007466.2:g.35638G>A
NC_000010.11:g.87894076G>A
More... 		06/01/2019 5 prime utr variant|missense variant pathogenic Cowden; Cowden disease; Cowden's disease; Cowden's syndrome; Multiple hamartoma syndrome; none provided; PTEN Hamartomatous Tumour Syndrome; PTEN-related disorders
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_001304717
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 217

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: G to D (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEDVYRNNIDDVVRFLDSKHKNHYKIYNLCAERHYDTAK
FNCRVAQYPFEDHNPPQLELIKPFCEDLDQWLSEDDNHVAAIHCKAGKGRTGVMICAYLLHRGKFLKAQEALDFYGEVRT
RDKKGVTIPSQRRYVYYYSYLLKNHLDYRPVALLFHKMMFETIPMFSGGTCNPQFVVCQLKVKIYSSNSGPTRREDKFMY
FEFPQPLPVCGDIKVEFFHKQNKMLKKDKMFHFWVNTFFIPGPEETSEKVENGSLCDQEIDSICSIERADNDKEYLVLTL
TKNDLDKANKDKANRYFSPNFKVKLYFTKTVEEPSNPEASSSTSVTPDVSDNEPDHYRYSDTTDSDPENEPFDEDQHTQI
TKV*
Variant Samples
Additional References at PubMed
PMID:19265751   PMID:21828076   PMID:28475857   PMID:28526761   PMID:34958143  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000490575 CLINVAR
  RCV001092593 CLINVAR
  RCV003492073 CLINVAR
dbSNP (RS) rs1085308042 CLINVAR
MedGen C0018553 CLINVAR
  C1959582 CLINVAR
  C3661900 CLINVAR
NCBI Gene PTEN CLINVAR
OMIM 158350 CLINVAR
  601728 CLINVAR
SNOMED CT 58037000 CLINVAR