RGD:155795174 Rat Genome Database

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Variant: RGD:155795174 -  Homo sapiens

RGD ID: 155795174
ClinVar ID: CV1858969
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-11  TSPEAR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 46,066,487
GRCh38 21 44,646,570
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000021.9:g.44646570G>A
NC_000021.8:g.46066487G>A
NM_198692.2:c.112G>A
NG_033806.1:g.70009C>T
More... 		11/01/2022 intron variant likely benign|uncertain significance AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View
myoepithelioma  (IAGP)


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

Gene Symbol:KRTAP10-11
Accession:NM_198692
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASTMSVCSSAYSDSWQVDDCPESCCEPPCSAPSCCTPAPSLSLVCTPVSCVSSPCCQAACEPSACQSGCTSSCTPSCC
QQSSCQPACCTSSPCQQACCVPVCCKTVCCKPVCCVPVCCGAASSCCRQSSCQPACCASSSCQPACCVPVCCKPVCCVST
CSEDSSSCCQQSSCQPACCTSSSYQQACCVPVCCKTVYCKPICCVPVCSRASSSRCQQPSCQPACCTTSCCRPSSSVSLL
CHPVCRSTCCVPVSSCCAPTSSCQSSCCRPASCVSLLCRPASSRLACYSLCSGKKSSC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002463934 CLINVAR
  RCV004067544 CLINVAR
MedGen C0027070 CLINVAR
  CN169374 CLINVAR
NCBI Gene KRTAP10-11 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR