RGD:156334265 Rat Genome Database

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Variant: RGD:156334265 -  Homo sapiens

RGD ID: 156334265
ClinVar ID: CV2333361
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-5  LOC127894949  TSPEAR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 46,000,244
GRCh38 21 44,580,367
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.-122-12362C>T
NM_198694.3:c.212C>T
NM_144991.3:c.83-12362C>T
NG_144581.1:g.129G>A
More... 		09/01/2021 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: P to H (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAACTMSVCSSACSDSWRVDDCPESCCEPPCGTAPCLTLVCTPVSCVSSPCCQAACEPSPCQSGCTSSCTHSCCQPACCA
SSPCQQACCVPVCCKPVCCLPTCSKDSSSCCQQSSCQPTCCASSSCQQSCCVPVCCKPVCCVPTCSEDSSSCCQHSSCQP
TCCTSSPCQQSCYVPVCCKPVCCKPICCVPVCSGASTSCCQQSSCQPACCTTSCCRPSSSVSLLCRPICRPACCLPISSC
CAPASSYQASCCRPASCVSLLCRPACSPLAC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004190071 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP10-5 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR