RGD:401866612 Rat Genome Database

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Variant: RGD:401866612 -  Homo sapiens

RGD ID: 401866612
ClinVar ID: CV2782894
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-9  TSPEAR  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 46,047,536
GRCh38 21 44,627,619
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_941963.2:p.Cys150Arg
NM_001272037.2:c.-122-59614A>G
NM_198690.3:c.448T>C
NM_144991.3:c.83-59614A>G
More... 		08/21/2023 intron variant uncertain significance AllHighlyPenetrant

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

Gene Symbol:KRTAP10-9
Accession:NM_198690
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 150
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASTMSIRSSAYSDSWQVDDCPESCCEPPCCATSCCAPAPCLTLVCTPVSRVSSPCCQVTCEPSPCQSGCTSSCTPSCC
QQSSCQPAYCTSSPCQQACCVPVCCKPVCCVPVCCGASSCCQQSSYQPACCASSSCQPACCVPVCCKPVRCAPTCSEDSY
SCCQQSSCQPACCTSSPCQQSYCVPVCCKPVCCKPICCVPVCSGASSLCCQQSGCQPACCTTSCCRPSSSVSLLCRPVCR
PACCVPVSSCCAPTSSRQPSYCRQASCVSLLCRPVCSRPACYSFSSGQKSSC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004361697 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP10-9 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR