RGD:11089717 Rat Genome Database

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Variant: RGD:11089717 -  Homo sapiens

RGD ID: 11089717
RS ID: rs876660634
ClinVar ID: CV233846
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTEN  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 89,685,308
GRCh38 10 87,925,551
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NC_000010.11:g.87925551A>G
NC_000010.10:g.89685308A>G
NM_000314.4:c.203A>G
NP_000305.3:p.Tyr68Cys
More... 		09/26/2023 intron variant pathogenic|likely pathogenic adult Autistic disorder; Autistic disorder of childhood onset; C1836830; Cancer predisposition; Cerebral visual impairment; Cognitive impairment; Cortical visual impairment; Developmental regression; Global developmental delay; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Infantile spasm; Infantile spasms; Microcephaly; Microcephaly (disease); Neoplastic Syndromes, Hereditary; none provided; PTEN Hamartomatous Tumour Syndrome; PTEN-related disorders; Seizure; Seizures; 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;INTRON

Gene Symbol:PTEN
Accession:NM_000314
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 68
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVRFLDSKHKNHYKICNLCAERHYDTAK
FNCRVAQYPFEDHNPPQLELIKPFCEDLDQWLSEDDNHVAAIHCKAGKGRTGVMICAYLLHRGKFLKAQEALDFYGEVRT
RDKKGVTIPSQRRYVYYYSYLLKNHLDYRPVALLFHKMMFETIPMFSGGTCNPQFVVCQLKVKIYSSNSGPTRREDKFMY
FEFPQPLPVCGDIKVEFFHKQNKMLKKDKMFHFWVNTFFIPGPEETSEKVENGSLCDQEIDSICSIERADNDKEYLVLTL
TKNDLDKANKDKANRYFSPNFKVKLYFTKTVEEPSNPEASSSTSVTPDVSDNEPDHYRYSDTTDSDPENEPFDEDQHTQI
TKV*

Gene Symbol:PTEN
Accession:NM_001304717
Location:EXON
Amino Acid Prediction: I to M (nonsynonymous)
Amino Acid Position: 241

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
MQSLC*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
Variant Samples
Additional References at PubMed
PMID:9288766   PMID:9600246   PMID:16704655   PMID:19457929   PMID:20926450   PMID:21956414   PMID:24778394   PMID:25669429   PMID:25741868   PMID:26246517   PMID:27514801   PMID:28492532  
PMID:28523199   PMID:29296277   PMID:29706350   PMID:29785012   PMID:32003824  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000215167 CLINVAR
  RCV000690989 CLINVAR
  RCV000735377 CLINVAR
  RCV001332358 CLINVAR
  RCV001551732 CLINVAR
  RCV003156087 CLINVAR
dbSNP (RS) rs876660634 CLINVAR
MedGen C0004352 CLINVAR
  C0027672 CLINVAR
  C1959582 CLINVAR
  C3661900 CLINVAR
  CN072330 CLINVAR
NCBI Gene PTEN CLINVAR
OMIM 158350 CLINVAR
  209850 CLINVAR
  601728 CLINVAR
SNOMED CT 408856003 CLINVAR
  699346009 CLINVAR