RGD:405250964 Rat Genome Database

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Variant: RGD:405250964 -  Homo sapiens

RGD ID: 405250964
ClinVar ID: CV3074505
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POT1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 124,537,208
GRCh38 7 124,897,154
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.-254+11A>G
NM_015450.3:c.9+11A>G
NG_029232.1:g.37830A>G
NC_000007.14:g.124897154T>C
More... 		05/19/2023 intron variant likely benign 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_001042594
Location:5UTRS;INTRON

Gene Symbol:POT1
Accession:NM_015450
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003747631 CLINVAR
MedGen C4014476 CLINVAR
NCBI Gene POT1 CLINVAR
OMIM 606478 CLINVAR
  615848 CLINVAR