RGD:401773026 Rat Genome Database

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Variant: RGD:401773026 -  Homo sapiens

RGD ID: 401773026
ClinVar ID: CV2716433
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-10  TSPEAR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 46,057,873
GRCh38 21 44,637,956
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+52589G>A
NM_181688.3:c.539C>T
NM_144991.3:c.83-69951G>A
NG_033806.2:g.78616G>A
More... 		06/07/2023 intron variant uncertain significance AllHighlyPenetrant

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

Gene Symbol:KRTAP10-10
Accession:NM_181688
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASTMSICSSACTDSWRVVDCPESCCEPCCCAPAPSLTLVCTPVSCVSSPCCQTACEPSACQSGYTSSCTTPCYQQSSC
QPDCCTSSPCQQACCVPVCCVPVCCVPVCNKPVCFVPTCSESSPSCCQQSSCQPTCCTSSPCQQACCVPVCSKSVCYVPV
CSGASTSCCQQSSCQPACCIASCCRPSSSVSLLCHPVCKSTCCVPVPSCGASASSCQPSCCRTASCVSLLCRPVCSRPAC
YSLCSGQKSSC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004325742 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP10-10 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR