RGD:13466364 Rat Genome Database

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Variant: RGD:13466364 -  Homo sapiens

RGD ID: 13466364
RS ID: rs866612394
ClinVar ID: CV456405
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 124,481,233
GRCh38 7 124,841,179
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001042594.2:c.771-1G>A
NG_029232.1:g.93805G>A
NC_000007.13:g.124481233C>T
NC_000007.14:g.124841179C>T
More... 		10/10/2022 splice acceptor variant pathogenic|likely pathogenic|uncertain significance 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


Variant Details
Variant Transcripts
Gene Symbol:POT1
Accession:NM_015450
Location:INTRON

Gene Symbol:POT1
Accession:NM_001042594
Location:INTRON

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

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

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:27528712   PMID:28492532   PMID:29625052   PMID:37140166  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000543378 CLINVAR
  RCV001010069 CLINVAR
  RCV001821623 CLINVAR
  RCV003329304 CLINVAR
dbSNP (RS) rs866612394 CLINVAR
MedGen C0027672 CLINVAR
  C3661900 CLINVAR
  C4014476 CLINVAR
NCBI Gene POT1 CLINVAR
OMIM 606478 CLINVAR
  615848 CLINVAR
OMIM Allele 606478.0016 CLINVAR
SNOMED CT 699346009 CLINVAR