RGD:401858226 Rat Genome Database

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Variant: RGD:401858226 -  Homo sapiens

RGD ID: 401858226
ClinVar ID: CV2766421
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-5  LOC127894948  TSPEAR  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 45,999,846
GRCh38 21 44,579,969
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.-122-11964A>T
NM_198694.3:c.610A>T
NM_144991.3:c.83-11964A>T
NG_033806.2:g.136603A>T
More... 		09/12/2023 intron variant uncertain significance AllHighlyPenetrant

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

Gene Symbol:KRTAP10-5
Accession:NM_198694
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 204
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAACTMSVCSSACSDSWRVDDCPESCCEPPCGTAPCLTLVCTPVSCVSSPCCQAACEPSPCQSGCTSSCTPSCCQPACCA
SSPCQQACCVPVCCKPVCCLPTCSKDSSSCCQQSSCQPTCCASSSCQQSCCVPVCCKPVCCVPTCSEDSSSCCQHSSCQP
TCCTSSPCQQSCYVPVCCKPVCCKPICCVPVCSGASTSCCQQSSCQPACCTTSCCRPSSSVSLLCRPICRPACCLPISSC
CAPASSYQASCCRPASCVSLLCRPACSPLAC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004345265 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP10-5 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR