RGD:156144809 Rat Genome Database

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Variant: RGD:156144809 -  Homo sapiens

RGD ID: 156144809
ClinVar ID: CV2292313
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-6  LOC127894951  TSPEAR  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 46,011,783
GRCh38 21 44,591,902
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.-122-23897C>G
NM_198688.3:c.583C>G
NM_144991.3:c.83-23897C>G
NG_033806.2:g.124670C>G
More... 		06/10/2022 intron variant uncertain significance AllHighlyPenetrant

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: P to P (synonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASTMSVCSSDLSYGSRVCLPGSCDSCSDSWQVDDCPESCCEPPCCAPAPCLSLVCTPVSRVSSPCCPVTCEPSPCQSG
CTSSCTPSCCQQSSCQLACCASSPCQQACCVPVCCKTVCCKPVCCVSVCCGDSSCCQQSSCQSACCTSSPCQQACCVPVC
CKPVCSGISSSCCQQSSCVSCVSSPCCQAVCEPSPCQSGCTSSCTPSCCQQSSCQPTCCTSSPCQQACCVPVCCVPVCCV
PTCSEDSSSCCQQSSCQPACCTSSPCQHACCVPVCSGASTSCCQQSSCQPACCTASCCRSSSSVSLLCHPVCKSTCCVPV
PSCGASASSCQPSCCRTASCVSLLCRPMCSRPACYSLCSGQKSSC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004150130 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP10-6 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR