RGD:401920204 Rat Genome Database

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Variant: RGD:401920204 -  Homo sapiens

RGD ID: 401920204
ClinVar ID: CV2821846
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-12  LOC127894968  TSPEAR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 46,117,796
GRCh38 21 44,697,881
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_198699.1:c.680G>A
NM_144991.3:c.82+13552C>T
NG_033806.2:g.18691C>T
NG_033806.1:g.18700C>T
More... 		01/01/2023 intron variant likely benign none provided

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

Gene Symbol:KRTAP10-12
Accession:NM_198699
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 227
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVCSSDLSYGSRVCLPGSCDSCSDSWQVDDCPESCCEPPCCAPAPCLSLVCTPVSRVSSPCCRVTCEPSPCQSGCTSSC
TPSCCQQSSCQPACCTSSPCQQACCVPVCCKTVCCKPVCCMPVCCGPSSSCCQQSSCQPACCISSPCQQSCCVPVCCKPI
CCVPVCSGASSLCCQQSSCQPACCTTSCCRPSSSVSLLCRPVCRPARRVPVPSCCVPTSSCQPSCGHLASCGSLLCRPTC
SRLAC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003431575 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KRTAP10-12 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR