RGD:155936381 Rat Genome Database

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Variant: RGD:155936381 -  Homo sapiens

RGD ID: 155936381
ClinVar ID: CV2379815
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-8  LOC127894959  TSPEAR  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 46,032,549
GRCh38 21 44,612,632
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.-122-44627G>T
NM_198695.2:c.532C>A
NM_144991.3:c.83-44627G>T
NG_033806.2:g.103940G>T
More... 		10/26/2022 intron variant uncertain significance AllHighlyPenetrant

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

Gene Symbol:KRTAP10-8
Accession:NM_198695
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADACCTRTYVIAASTMSVCSSDVGHVSRVSSPSTCTGSSWQVDNCQESCCEPRSCASSCCTPSCCAPAPCLALVCAPVS
CEPSPCQSGCTDSCTPSCCQQSSCQPACCTSSPCQQACCVPVCCKSNCCKPVCCVSICSGASSPCCQQSSCQSACCTFSP
CQQACCVPICCKPICCVTVCSGASSLCCQKSSCQPACCTTSCCRPSSSVSLLCRPVCRPACCVPVPSCCVPASSCQPSCC
HPASCLSFLCRPACSRLAC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004219929 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP10-8 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR