RGD:329382072 Rat Genome Database

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Variant: RGD:329382072 -  Homo sapiens

RGD ID: 329382072
ClinVar ID: CV2424320
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-6  LOC127894952  TSPEAR  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 46,012,261
GRCh38 21 44,592,380
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.-122-24375C>A
NM_198688.3:c.105C>A
NM_144991.3:c.83-24375C>A
NG_033806.2:g.124192C>A
More... 		03/06/2023 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: D to D (synonymous)
Amino Acid Position: 35
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 RCV004252227 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP10-6 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR