RGD:151768864 Rat Genome Database

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Variant: RGD:151768864 -  Homo sapiens

RGD ID: 151768864
RS ID: rs2116414736
ClinVar ID: CV1410522
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POT1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 124,467,281
GRCh38 7 124,827,227
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.1280A>G
NM_015450.3:c.1673A>G
NG_029232.1:g.107757A>G
NC_000007.14:g.124827227T>C
More... 		08/27/2021 missense variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; LONG TELOMERE SYNDROME, POT1-RELATED; Melanoma, cutaneous malignant, susceptibility to, 10; Neoplastic Syndromes, Hereditary; 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: Y to C (nonsynonymous)
Amino Acid Position: 427
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVEALRVWASTHMSPSWTLLKLCDVQPMQYFDLTCQLLGKAEVDGASFLLKVWDGTRTPFPSWRVLIQDLVLEGDLSHIH
RLQNLTIDILVYDNHVHVARSLKVGSFLRIYSLHTKLQSMNSENQTMLSLEFHLHGGTSYGRGIRVLPESNSDVDQLKKD
LESANLTANQHSDVICQSEPDDSFPSSGSVSLYEVERCQQLSATILTDHQYLERTPLCAILKQKAPQQYRIRAKLRSYKP
RRLFQSVKLHCPKCHLLQEVPHEGDLDIIFQDGATKTPDVKLQNTSLYDSKIWTTKNQKGRKVAVHFVKNNGILPLSNEC
LLLIEGGTLSEICKLSNKFNSVIPVRSGHEDLELLDLSAPFLIQGTIHHYGCKQCSSLRSIQNLNSLVDKTSWIPSSVAE
ALGIVPLQYVFVMTFTLDDGTGVLEACLMDSDKFFQIPASEVLMDDDLQKSVDMIMDMFCPPGIKIDAYPWLECFIKSYN
VTNGTDNQICYQIFDTTVAEDVI*

Gene Symbol:POT1
Accession:NM_015450
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 558
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLVPATNYIYTPLNQLKGGTIVNVYGVVKFFKPPYLSKGTDYCSVVTIVDQTNVKLTCLLFSGNYEALPIIYKNGDIVR
FHRLKIQVYKKETQGITSSGFASLTFEGTLGAPIIPRTSSKYFNFTTEDHKMVEALRVWASTHMSPSWTLLKLCDVQPMQ
YFDLTCQLLGKAEVDGASFLLKVWDGTRTPFPSWRVLIQDLVLEGDLSHIHRLQNLTIDILVYDNHVHVARSLKVGSFLR
IYSLHTKLQSMNSENQTMLSLEFHLHGGTSYGRGIRVLPESNSDVDQLKKDLESANLTANQHSDVICQSEPDDSFPSSGS
VSLYEVERCQQLSATILTDHQYLERTPLCAILKQKAPQQYRIRAKLRSYKPRRLFQSVKLHCPKCHLLQEVPHEGDLDII
FQDGATKTPDVKLQNTSLYDSKIWTTKNQKGRKVAVHFVKNNGILPLSNECLLLIEGGTLSEICKLSNKFNSVIPVRSGH
EDLELLDLSAPFLIQGTIHHYGCKQCSSLRSIQNLNSLVDKTSWIPSSVAEALGIVPLQYVFVMTFTLDDGTGVLEACLM
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001988047 CLINVAR
  RCV002397994 CLINVAR
dbSNP (RS) rs2116414736 CLINVAR
MedGen C0027672 CLINVAR
  C4014476 CLINVAR
NCBI Gene POT1 CLINVAR
OMIM 606478 CLINVAR
  615848 CLINVAR
SNOMED CT 699346009 CLINVAR