RGD:156085556 Rat Genome Database

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Variant: RGD:156085556 -  Homo sapiens

RGD ID: 156085556
ClinVar ID: CV2244626
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-1  LOC127894943  TSPEAR  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 45,959,276
GRCh38 21 44,539,393
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.100-5470C>A
NM_144991.3:c.304-5470C>A
NM_198691.3:c.758C>A
NG_033806.2:g.177179C>A
More... 		08/17/2021 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KRTAP10-1
Accession:NM_198691
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 253
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASTMSVCSSACSDSWQVDACPESCCEPHCCALSCCAPAPCLTLVCTPVSRVSSPCCQAACEPSPCQSGCTSSCTPSCC
QQSSCQPACCTSSPCQQACCVPVCCKPVCCLPTCSKDSSSCCQQSSCQPTCCASSSSQQSCCVPVCCKPVCYVPTCSEDS
SSCCQQSSCHPACCTSSPCQQACCVPVRCKPVCCKPICCVPVCSGASTSCCQQSSCQPACCTTSCCRPSSSVSLLCRPVC
RPACCMPVSSCCVPASSCQASCCRPASCVSLLCRPACSRPAC*

Gene Symbol:TSPEAR
Accession:NM_001272037
Location:INTRON

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004102343 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP10-1 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR