RGD:156060691 Rat Genome Database

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Variant: RGD:156060691 -  Homo sapiens

RGD ID: 156060691
ClinVar ID: CV2343796
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-8  LOC127894959  TSPEAR  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 46,032,153
GRCh38 21 44,612,236
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_198695.2:c.136T>C
NP_941968.2:p.Cys46Arg
NM_001272037.2:c.-122-44231A>G
NM_144991.3:c.83-44231A>G
More... 		11/15/2021 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TSPEAR
Accession:NM_001272037
Location:5UTRS;INTRON

Gene Symbol:KRTAP10-8
Accession:NM_198695
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADACCTRTYVIAASTMSVCSSDVGHVSRVSSPSTCTGSSWQVDNRQESCCEPRSCASSCCTPSCCAPAPCLALVCAPVS
CEPSPCQSGCTDSCTPSCCQQSSCQPACCTSSPCQQACCVPVCCKSNCCKPVCCVSICSGASSPCCQQSSCQSACCTFSP
CQQACCVPICCKPICCVPVCSGASSLCCQKSSCQPACCTTSCCRPSSSVSLLCRPVCRPACCVPVPSCCVPASSCQPSCC
HPASCLSFLCRPACSRLAC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004192978 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP10-8 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR