rs75932146 Rat Genome Database

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Variant: rs75932146 -  Homo sapiens

RGD ID: 13486601
RS ID: rs75932146
ClinVar ID: CV456424
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POT1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 124,487,025
GRCh38 7 124,846,971
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015450.3:c.977T>C
NM_015450.2:c.977T>C
NR_003103.2:n.1420T>C
NR_003104.2:n.1420T>C
More... 		01/27/2023 missense variant likely benign|uncertain significance AllHighlyPenetrant; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; LONG TELOMERE SYNDROME, POT1-RELATED; Melanoma, cutaneous malignant, susceptibility to, 10; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View

GWAS Catalog Data
GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG SNP Passing QC Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GCST90013703 Lung cancer 4,050 Japanese ancestry cases, 208,403 Japanese ancestry controls ? NR 2E-11 10.698970004336019 Illumina [8919992] (imputed) 2.4191742 lung carcinoma (EFO:0001071)
 PMID:32514122
GCST90013777 Lung cancer 1,340 Japanese ancestry female cases, 101,766 Japanese ancestry female controls G 0.028748516 2E-8 7.698970004336019 Illumina [8919992] (imputed) 2.2854435 lung carcinoma (EFO:0001071)
 PMID:32514122

Variant Details
Variant Transcripts
Gene Symbol:POT1
Accession:NM_001042594
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVEALRVWASTHMSPSWTLLKLCDVQPMQYFDLTCQLLGKAEVDGASFLLKVWDGTRTPFPSWRVLIQDLVLEGDLSHIH
RLQNLTIDILVYDNHVHVARSLKVGSFLRIYSLHTKLQSMNSENQTMLSLEFHLHGGTSYGRGIRVLPESNSDVDQLKKD
LESANLTANQHSDVICQSEPDDSFPSSGSVSLYEAERCQQLSATILTDHQYLERTPLCAILKQKAPQQYRIRAKLRSYKP
RRLFQSVKLHCPKCHLLQEVPHEGDLDIIFQDGATKTPDVKLQNTSLYDSKIWTTKNQKGRKVAVHFVKNNGILPLSNEC
LLLIEGGTLSEICKLSNKFNSVIPVRSGHEDLELLDLSAPFLIQGTIHHYGCKQCSSLRSIQNLNSLVDKTSWIPSSVAE
ALGIVPLQYVFVMTFTLDDGTGVLEAYLMDSDKFFQIPASEVLMDDDLQKSVDMIMDMFCPPGIKIDAYPWLECFIKSYN
VTNGTDNQICYQIFDTTVAEDVI*

Gene Symbol:POT1
Accession:NM_015450
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 326
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLVPATNYIYTPLNQLKGGTIVNVYGVVKFFKPPYLSKGTDYCSVVTIVDQTNVKLTCLLFSGNYEALPIIYKNGDIVR
FHRLKIQVYKKETQGITSSGFASLTFEGTLGAPIIPRTSSKYFNFTTEDHKMVEALRVWASTHMSPSWTLLKLCDVQPMQ
YFDLTCQLLGKAEVDGASFLLKVWDGTRTPFPSWRVLIQDLVLEGDLSHIHRLQNLTIDILVYDNHVHVARSLKVGSFLR
IYSLHTKLQSMNSENQTMLSLEFHLHGGTSYGRGIRVLPESNSDVDQLKKDLESANLTANQHSDVICQSEPDDSFPSSGS
VSLYEAERCQQLSATILTDHQYLERTPLCAILKQKAPQQYRIRAKLRSYKPRRLFQSVKLHCPKCHLLQEVPHEGDLDII
FQDGATKTPDVKLQNTSLYDSKIWTTKNQKGRKVAVHFVKNNGILPLSNECLLLIEGGTLSEICKLSNKFNSVIPVRSGH
EDLELLDLSAPFLIQGTIHHYGCKQCSSLRSIQNLNSLVDKTSWIPSSVAEALGIVPLQYVFVMTFTLDDGTGVLEAYLM
DSDKFFQIPASEVLMDDDLQKSVDMIMDMFCPPGIKIDAYPWLECFIKSYNVTNGTDNQICYQIFDTTVAEDVI*

Gene Symbol:POT1
Accession:NR_003103
Location:EXON;NON-CODING

Gene Symbol:POT1
Accession:NR_003102
Location:EXON;NON-CODING

Gene Symbol:POT1
Accession:NR_003104
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532   PMID:34193977  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000553819 CLINVAR
  RCV001019738 CLINVAR
  RCV001553289 CLINVAR
  RCV001821631 CLINVAR
dbSNP (RS) rs75932146 CLINVAR
GWAS Catalog GCST90013777 GWAS Catalog
MedGen C0027672 CLINVAR
  C3661900 CLINVAR
  C4014476 CLINVAR
  CN169374 CLINVAR
NCBI Gene POT1 CLINVAR
OMIM 606478 CLINVAR
  615848 CLINVAR
SNOMED CT 699346009 CLINVAR