RGD:401883282 Rat Genome Database

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Variant: RGD:401883282 -  Homo sapiens

RGD ID: 401883282
ClinVar ID: CV2760841
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-11  TSPEAR  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 46,066,968
GRCh38 21 44,647,051
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001272037.2:c.-123+43494T>C
NM_198692.3:c.593A>G
NM_144991.3:c.82+64382T>C
NG_144593.1:g.63A>G
More... 		06/21/2023 intron variant likely benign AllHighlyPenetrant

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

Gene Symbol:KRTAP10-11
Accession:NM_198692
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASTMSVCSSAYSDSWQVDDCPESCCEPPCSAPSCCAPAPSLSLVCTPVSCVSSPCCQAACEPSACQSGCTSSCTPSCC
QQSSCQPACCTSSPCQQACCVPVCCKTVCCKPVCCVPVCCGAASSCCRQSSCQPACCASSSCQPACCVPVCCKPVCCVST
CSEDSSSCCQQSSCQPACCTSSSYQQACCVPVCCKTVCCKPICCVPVCSRASSSRCQQPSCQPACCTTSCCRPSSSVSLL
CHPVCRSTCCVPVSSCCAPTSSCQSSCCRPASCVSLLCRPASSRLACYSLCSGKKSSC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004336478 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP10-11 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR