RGD:401871984 Rat Genome Database

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Variant: RGD:401871984 -  Homo sapiens

RGD ID: 401871984
ClinVar ID: CV2775798
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-1  LOC127894943  TSPEAR  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 45,959,291
GRCh38 21 44,539,408
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_941964.2:p.Val248Asp
NM_001272037.2:c.100-5485T>A
NM_144991.3:c.304-5485T>A
NM_198691.3:c.743T>A
More... 		06/29/2023 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KRTAP10-1
Accession:NM_198691
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 248
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASTMSVCSSACSDSWQVDACPESCCEPHCCALSCCAPAPCLTLVCTPVSRVSSPCCQAACEPSPCQSGCTSSCTPSCC
QQSSCQPACCTSSPCQQACCVPVCCKPVCCLPTCSKDSSSCCQQSSCQPTCCASSSSQQSCCVPVCCKPVCYVPTCSEDS
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 RCV004344843 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP10-1 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR