RGD:405247247 Rat Genome Database

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Variant: RGD:405247247 -  Homo sapiens

RGD ID: 405247247
ClinVar ID: CV3038203
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POT1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 124,481,018
GRCh38 7 124,840,964
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.1369+9T>C
NM_001042594.2:c.976+9T>C
NG_029232.1:g.94020T>C
NC_000007.14:g.124840964A>G
More... 		01/04/2024 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:INTRON

Gene Symbol:POT1
Accession:NM_015450
Location:INTRON

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003746297 CLINVAR
MedGen C4014476 CLINVAR
NCBI Gene POT1 CLINVAR
OMIM 606478 CLINVAR
  615848 CLINVAR