RGD:26888368 Rat Genome Database

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Variant: RGD:26888368 -  Homo sapiens

RGD ID: 26888368
RS ID: rs1794702760
ClinVar ID: CV852052
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 124,469,307
GRCh38 7 124,829,253
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_029232.1:g.105731G>A
NC_000007.14:g.124829253C>T
NC_000007.13:g.124469307C>T
NM_015450.2:c.1594+1G>A
More... 		09/02/2021 splice donor variant likely pathogenic|uncertain significance LONG TELOMERE SYNDROME, POT1-RELATED; Melanoma, cutaneous malignant, susceptibility to, 10
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_003103
Location:INTRON;NON-CODING

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

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

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:28492532   PMID:32155570  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001045255 CLINVAR
dbSNP (RS) rs1794702760 CLINVAR
MedGen C4014476 CLINVAR
NCBI Gene POT1 CLINVAR
OMIM 606478 CLINVAR
  615848 CLINVAR