RGD:13821639 Rat Genome Database

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Variant: RGD:13821639 -  Homo sapiens

RGD ID: 13821639
RS ID: rs548024862
ClinVar ID: CV563991
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POT1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 124,475,396
GRCh38 7 124,835,342
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015450.2:c.1442A>G
NG_029232.1:g.99642A>G
NC_000007.14:g.124835342T>C
NC_000007.13:g.124475396T>C
More... 		09/05/2023 missense variant uncertain significance AllHighlyPenetrant; 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_001042594
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVEALRVWASTHMSPSWTLLKLCDVQPMQYFDLTCQLLGKAEVDGASFLLKVWDGTRTPFPSWRVLIQDLVLEGDLSHIH
RLQNLTIDILVYDNHVHVARSLKVGSFLRIYSLHTKLQSMNSENQTMLSLEFHLHGGTSYGRGIRVLPESNSDVDQLKKD
LESANLTANQHSDVICQSEPDDSFPSSGSVSLYEVERCQQLSATILTDHQYLERTPLCAILKQKAPQQYRIRAKLRSYKP
RRLFQSVKLHCPKCHLLQEVPHEGDLDIIFQDGATKTPDVKLQNTSLYDSKIWTTKNQKGRKVAVHFVKNNGILPLSNEC
LLLIEGGTLSEICKLSNKFNSVIPVRSGHGDLELLDLSAPFLIQGTIHHYGCKQCSSLRSIQNLNSLVDKTSWIPSSVAE
ALGIVPLQYVFVMTFTLDDGTGVLEAYLMDSDKFFQIPASEVLMDDDLQKSVDMIMDMFCPPGIKIDAYPWLECFIKSYN
VTNGTDNQICYQIFDTTVAEDVI*

Gene Symbol:POT1
Accession:NM_015450
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 481
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLVPATNYIYTPLNQLKGGTIVNVYGVVKFFKPPYLSKGTDYCSVVTIVDQTNVKLTCLLFSGNYEALPIIYKNGDIVR
FHRLKIQVYKKETQGITSSGFASLTFEGTLGAPIIPRTSSKYFNFTTEDHKMVEALRVWASTHMSPSWTLLKLCDVQPMQ
YFDLTCQLLGKAEVDGASFLLKVWDGTRTPFPSWRVLIQDLVLEGDLSHIHRLQNLTIDILVYDNHVHVARSLKVGSFLR
IYSLHTKLQSMNSENQTMLSLEFHLHGGTSYGRGIRVLPESNSDVDQLKKDLESANLTANQHSDVICQSEPDDSFPSSGS
VSLYEVERCQQLSATILTDHQYLERTPLCAILKQKAPQQYRIRAKLRSYKPRRLFQSVKLHCPKCHLLQEVPHEGDLDII
FQDGATKTPDVKLQNTSLYDSKIWTTKNQKGRKVAVHFVKNNGILPLSNECLLLIEGGTLSEICKLSNKFNSVIPVRSGH
GDLELLDLSAPFLIQGTIHHYGCKQCSSLRSIQNLNSLVDKTSWIPSSVAEALGIVPLQYVFVMTFTLDDGTGVLEAYLM
DSDKFFQIPASEVLMDDDLQKSVDMIMDMFCPPGIKIDAYPWLECFIKSYNVTNGTDNQICYQIFDTTVAEDVI*

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

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

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

Variant Samples
Additional References at PubMed
PMID:26467025   PMID:28492532   PMID:36539277  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000696190 CLINVAR
  RCV001011602 CLINVAR
  RCV001568200 CLINVAR
  RCV003151137 CLINVAR
dbSNP (RS) rs548024862 CLINVAR
MedGen C0027672 CLINVAR
  C3661900 CLINVAR
  C4014476 CLINVAR
  CN169374 CLINVAR
NCBI Gene POT1 CLINVAR
OMIM 606478 CLINVAR
  615848 CLINVAR
SNOMED CT 699346009 CLINVAR