RGD:156047821 Rat Genome Database

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Variant: RGD:156047821 -  Homo sapiens

RGD ID: 156047821
ClinVar ID: CV2244946
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-3  TSPEAR  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 45,978,145
GRCh38 21 44,558,262
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+9523T>G
NM_198696.3:c.454T>G
NM_001272037.2:c.99+9523T>G
NG_033806.2:g.158310T>G
More... 		09/01/2021 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KRTAP10-3
Accession:NM_198696
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSTMSVCSSAYSDSWQVDACPESCCEPPCCATSCCAPAPCLTLVCTPVSCVSSPCCQAACEPSPCQSGCTSSCTPSCC
QQSSCQPACCTSSPCQQACCVPVCCKPVCCVPVCCKPVCCKPICCVPVCSGASSSCCQQSSRQPACCTTSCRRPSSSVSL
LCRPVCRSTCCVPIPSCCAPASTCQPSCCRPASCVSLLCRPTCSRLSSACCGLSSGQKSSC*

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 RCV004104688 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP10-3 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR