RGD:401745453 Rat Genome Database

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Variant: RGD:401745453 -  Homo sapiens

RGD ID: 401745453
ClinVar ID: CV2698541
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-1  TSPEAR  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 45,959,763
GRCh38 21 44,539,880
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.100-5957A>G
NM_198691.3:c.271A>G
NM_144991.3:c.304-5957A>G
NG_033806.2:g.176692A>G
More... 		06/06/2023 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KRTAP10-1
Accession:NM_198691
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASTMSVCSSACSDSWQVDACPESCCEPHCCALSCCAPAPCLTLVCTPVSRVSSPCCQAACEPSPCQSGCTSSCTPSCC
QQSSCQPACCPSSPCQQACCVPVCCKPVCCLPTCSKDSSSCCQQSSCQPTCCASSSSQQSCCVPVCCKPVCYVPTCSEDS
SSCCQQSSCHPACCTSSPCQQACCVPVRCKPVCCKPICCVPVCSGASTSCCQQSSCQPACCTTSCCRPSSSVSLLCRPVC
RPACCMPVSSCCAPASSCQASCCRPASCVSLLCRPACSRPAC*

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 RCV004299031 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP10-1 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR