RGD:401774849 Rat Genome Database

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Variant: RGD:401774849 -  Homo sapiens

RGD ID: 401774849
ClinVar ID: CV2713668
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-4  LOC127894947  TSPEAR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 45,994,735
GRCh38 21 44,574,858
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.-122-6853G>A
NM_198687.2:c.1100C>T
NM_144991.3:c.83-6853G>A
NG_033806.2:g.141714G>A
More... 		06/01/2023 intron variant uncertain significance AllHighlyPenetrant

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

Gene Symbol:KRTAP10-4
Accession:NM_198687
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVCSSDLSYSSRVCLPGSCDSCSDSWQVDDCPESCCEPPCCAPSCCAPAPCLSLVCTPVSRVSSPCCPVTCEPSPCQSG
CTSSCTPSCCQQSSCQLACCASSPCQQACCVPVCCKTVCCKPVCCVPVCCGDSSCCQQSSCQSACCTSSPCQQACCVPIC
CKPVCSGISSSCCQQSSCVSCVSSPCCQAVCEPSPCQSGCISSCTPSCCQQSSCQPACCTSSSCQQACCVPVCCKTVCCK
PVCSEDSSSCCQQSSCQPACCTSSPCQQACCVPVCCKPVCCKPVCSVPICSGASSLCCQQSSCQPACCTSSQSQQGCCVP
VCCKPVSCVPVCSGASSSCCQQSSCQPACCTTSCCRPSSSVSLLCRLVCRPACCVPVPSCCAPTSSCQPSCCRPASCVSL
L*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004321034 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP10-4 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR