RGD:401884452 Rat Genome Database

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Variant: RGD:401884452 -  Homo sapiens

RGD ID: 401884452
ClinVar ID: CV2758957
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-3  TSPEAR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 45,977,994
GRCh38 21 44,558,111
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_144991.3:c.303+9674C>T
NM_198696.3:c.605C>T
NM_001272037.2:c.99+9674C>T
NG_033806.2:g.158461C>T
More... 		06/21/2023 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KRTAP10-3
Accession:NM_198696
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSTMSVCSSAYSDSWQVDACPESCCEPPCCATSCCAPAPCLTLVCTPVSCVSSPCCQAACEPSPCQSGCTSSCTPSCC
QQSSCQPACCTSSPCQQACCVPVCCKPVCCVPVCCKPVCCKPICCVPVCSGASSSCCQQSSRQPACCTTSCCRPSSSVSL
LCRPVCRSTCCVPIPSCCAPASTCQPSCCRPASCVSLLCRPKCSRLSSACCGLSSGQKSSC*

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 RCV004342272 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP10-3 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR