RGD:9850636 Rat Genome Database

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Variant: RGD:9850636 -  Homo sapiens

RGD ID: 9850636
RS ID: rs751888926
ClinVar ID: CV183049
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTEN  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 89,720,704
GRCh38 10 87,960,947
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_311:g.102509A>G
NG_007466.2:g.102509A>G
NC_000010.11:g.87960947A>G
NC_000010.10:g.89720704A>G
More...
11/28/2020 synonymous variant benign|likely benign AllHighlyPenetrant; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; 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_000314
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 285
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVRFLDSKHKNHYKIYNLCAERHYDTAK
FNCRVAQYPFEDHNPPQLELIKPFCEDLDQWLSEDDNHVAAIHCKAGKGRTGVMICAYLLHRGKFLKAQEALDFYGEVRT
RDKKGVTIPSQRRYVYYYSYLLKNHLDYRPVALLFHKMMFETIPMFSGGTCNPQFVVCQLKVKIYSSNSGPTRREDKFMY
FEFPQPLPVCGDIKVEFFHKQNKMLKKDKMFHFWVNTFFIPGPEETSEKVENGSLCDQEIDSICSIERADNDKEYLVLTL
TKNDLDKANKDKANRYFSPNFKVKLYFTKTVEEPSNPEASSSTSVTPDVSDNEPDHYRYSDTTDSDPENEPFDEDQHTQI
TKV*

Gene Symbol:PTEN
Accession:NM_001304718
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMFETIPMFSGGTCNPQFVVCQLKVKIYSSNSGPTRREDKFMYFEFPQPLPVCGDIKVEFFHKQNKMLKKDKMFHFWVNT
FFIPGPEETSEKVENGSLCDQEIDSICSIERADNDKEYLVLTLTKNDLDKANKDKANRYFSPNFKVKLYFTKTVEEPSNP
EASSSTSVTPDVSDNEPDHYRYSDTTDSDPENEPFDEDQHTQITKV*

Gene Symbol:PTEN
Accession:NM_001304717
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 459

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*YQSRVLPQTEQDAKKGQNVSLLGKYILHTRTRGDLRKSRKWKSM*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:21194675   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000162591 CLINVAR
  RCV000204950 CLINVAR
  RCV000606748 CLINVAR
  RCV001086791 CLINVAR
  RCV003149988 CLINVAR
dbSNP (RS) rs751888926 CLINVAR
MedGen C0027672 CLINVAR
  C1959582 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN221562 CLINVAR
NCBI Gene PTEN CLINVAR
OMIM 601728 CLINVAR
SNOMED CT 699346009 CLINVAR