RGD:401829674 Rat Genome Database

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Variant: RGD:401829674 -  Homo sapiens

RGD ID: 401829674
ClinVar ID: CV2743915
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-6  LOC127894952  TSPEAR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 46,011,995
GRCh38 21 44,592,114
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.-122-24109G>A
NM_198688.3:c.371G>A
NM_144991.3:c.83-24109G>A
NG_144584.1:g.115C>T
More... 		08/01/2023 intron variant likely benign none provided

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

Gene Symbol:KRTAP10-6
Accession:NM_198688
Location:EXON
Amino Acid Prediction: C to F (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASTMSVCSSDLSYGSRVCLPGSCDSCSDSWQVDDCPESCCEPPCCAPAPCLSLVCTPVSRVSSPCCPVTCEPSPCQSG
CTSSCTPSCCQQSSCQLACCASSPCQQACCVPVCCKTVCCKPVFCVSVCCGDSSCCQQSSCQSACCTSSPCQQACCVPVC
CKPVCSGISSSCCQQSSCVSCVSSPCCQAVCEPSPCQSGCTSSCTPSCCQQSSCQPTCCTSSPCQQACCVPVCCVPVCCV
PTCSEDSSSCCQQSSCQPACCTSSPCQHACCVPVCSGASTSCCQQSSCQPACCTASCCRSSSSVSLLCHPVCKSTCCVPV
PSCGASASSCQPSCCRTASCVSLLCRPMCSRPACYSLCSGQKSSC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003327092 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KRTAP10-6 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR