RGD:156402293 Rat Genome Database

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Variant: RGD:156402293 -  Homo sapiens

RGD ID: 156402293
ClinVar ID: CV2363724
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-3  TSPEAR  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 45,978,097
GRCh38 21 44,558,214
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_144991.3:c.303+9571T>C
NM_198696.3:c.502T>C
NM_001272037.2:c.99+9571T>C
NG_033806.2:g.158358T>C
More... 		08/30/2022 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KRTAP10-3
Accession:NM_198696
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSTMSVCSSAYSDSWQVDACPESCCEPPCCATSCCAPAPCLTLVCTPVSCVSSPCCQAACEPSPCQSGCTSSCTPSCC
QQSSCQPACCTSSPCQQACCVPVCCKPVCCVPVCCKPVCCKPICCVPVCSGASSSCCQQSSRQPACCTTSCCRPSSSVSL
LCRPVCRATCCVPIPSCCAPASTCQPSCCRPASCVSLLCRPTCSRLSSACCGLSSGQKSSC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Gene Symbol:TSPEAR
Accession:NM_001272037
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004218714 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP10-3 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR