RGD:156180772 Rat Genome Database

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Variant: RGD:156180772 -  Homo sapiens

RGD ID: 156180772
ClinVar ID: CV2331485
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-10  TSPEAR  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 46,057,854
GRCh38 21 44,637,937
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+52608A>G
NM_181688.3:c.520T>C
NM_144991.3:c.83-69932A>G
NG_033806.2:g.78635A>G
More... 		02/17/2022 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: C to R (nonsynonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASTMSICSSACTDSWRVVDCPESCCEPCCCAPAPSLTLVCTPVSCVSSPCCQTACEPSACQSGYTSSCTTPCYQQSSC
QPDCCTSSPCQQACCVPVCCVPVCCVPVCNKPVCFVPTCSESSPSCCQQSSCQPTCCTSSPCQQACCVPVCSKSVCYVPV
CSGASTSCCQQSSRQPACCTASCCRPSSSVSLLCHPVCKSTCCVPVPSCGASASSCQPSCCRTASCVSLLCRPVCSRPAC
YSLCSGQKSSC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004184113 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP10-10 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR