RGD:127254714 Rat Genome Database

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Variant: RGD:127254714 -  Homo sapiens

RGD ID: 127254714
RS ID: rs2116415305
ClinVar ID: CV1095960
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POT1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 124,467,369
GRCh38 7 124,827,315
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.1202-10C>T
NM_015450.3:c.1595-10C>T
NG_029232.1:g.107669C>T
NC_000007.14:g.124827315G>A
More... 		10/21/2020 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_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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001426360 CLINVAR
dbSNP (RS) rs2116415305 CLINVAR
MedGen C4014476 CLINVAR
NCBI Gene POT1 CLINVAR
OMIM 606478 CLINVAR
  615848 CLINVAR