RGD:401767560 Rat Genome Database

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Variant: RGD:401767560 -  Homo sapiens

RGD ID: 401767560
ClinVar ID: CV2681703
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-11  TSPEAR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 46,066,418
GRCh38 21 44,646,501
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_198692.2:c.43G>A
NP_941965.2:p.Asp15Asn
NM_001272037.2:c.-123+44044C>T
NM_198692.3:c.43G>A
More... 		05/17/2023 intron variant uncertain significance AllHighlyPenetrant

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: D to N (nonsynonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASTMSVCSSAYSNSWQVDDCPESCCEPPCSAPSCCAPAPSLSLVCTPVSCVSSPCCQAACEPSACQSGCTSSCTPSCC
QQSSCQPACCTSSPCQQACCVPVCCKTVCCKPVCCVPVCCGAASSCCRQSSCQPACCASSSCQPACCVPVCCKPVCCVST
CSEDSSSCCQQSSCQPACCTSSSYQQACCVPVCCKTVYCKPICCVPVCSRASSSRCQQPSCQPACCTTSCCRPSSSVSLL
CHPVCRSTCCVPVSSCCAPTSSCQSSCCRPASCVSLLCRPASSRLACYSLCSGKKSSC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004294252 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP10-11 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR