RGD:156401936 Rat Genome Database

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Pathways
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Variant: RGD:156401936 -  Homo sapiens

RGD ID: 156401936
ClinVar ID: CV2371199
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-6  LOC127894951  TSPEAR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 46,011,800
GRCh38 21 44,591,919
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.-122-23914C>T
NM_198688.3:c.566C>T
NM_144991.3:c.83-23914C>T
NG_033806.2:g.124653C>T
More... 		11/12/2021 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TSPEAR
Accession:NM_001272037
Location:5UTRS;INTRON

Gene Symbol:KRTAP10-6
Accession:NM_198688
Location:EXON
Amino Acid Prediction: A to E (nonsynonymous)
Amino Acid Position: 189
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASTMSVCSSDLSYGSRVCLPGSCDSCSDSWQVDDCPESCCEPPCCAPAPCLSLVCTPVSRVSSPCCPVTCEPSPCQSG
CTSSCTPSCCQQSSCQLACCASSPCQQACCVPVCCKTVCCKPVCCVSVCCGDSSCCQQSSCQSACCTSSPCQQACCVPVC
CKPVCSGISSSCCQQSSCVSCVSSPCCQEVCEPSPCQSGCTSSCTPSCCQQSSCQPTCCTSSPCQQACCVPVCCVPVCCV
PTCSEDSSSCCQQSSCQPACCTSSPCQHACCVPVCSGASTSCCQQSSCQPACCTASCCRSSSSVSLLCHPVCKSTCCVPV
PSCGASASSCQPSCCRTASCVSLLCRPMCSRPACYSLCSGQKSSC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004220940 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP10-6 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR