RGD:150547604 Rat Genome Database

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Variant: RGD:150547604 -  Homo sapiens

RGD ID: 150547604
RS ID: rs200497262
ClinVar ID: CV1292095
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-12  LOC127894967  TSPEAR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 46,117,364
GRCh38 21 44,697,449
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.-184-6843G>A
NM_198699.1:c.248C>T
NM_144991.3:c.82+13984G>A
NG_033806.1:g.19132G>A
More... 		11/10/2022 intron variant likely benign|uncertain significance AllHighlyPenetrant; Deafness, autosomal recessive 98
Disease Annotations     Click to see Annotation Detail View


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: S to * (nonsynonymous)
Amino Acid Position: 83
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVCSSDLSYGSRVCLPGSCDSCSDSWQVDDCPESCCEPPCCAPAPCLSLVCTPVSRVSSPCCRVTCEPSPCQSGCTSSC
TP*CCQQSSCQPACCTSSPCQQACCVPVCCKTVCCKPVCCMPVCCGPSSSCCQQSSCQPACCISSPCQQSCCVPVCCKPI
CCVPVCSGASSLCCQQSSCQPACCTTSCCRPSSSVSLLCRPVCRPARRVPVPSCCVPTSSCQPSCGRLASCGSLLCRPTC
SRLAC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001733761 CLINVAR
  RCV004040046 CLINVAR
dbSNP (RS) rs200497262 CLINVAR
MedGen C3553932 CLINVAR
  CN169374 CLINVAR
NCBI Gene KRTAP10-12 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR
  614861 CLINVAR