RGD:11666951 Rat Genome Database

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Variant: RGD:11666951 -  Homo sapiens

RGD ID: 11666951
RS ID: rs62176112
ClinVar ID: CV283145
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127275346  PRKRA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 179,315,726
GRCh38 2 178,450,999
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001316362.2:c.-418C>T
NM_003690.5:c.32C>T
NG_012186.1:g.4564G>A
NG_009053.1:g.5233C>T
More... 		07/05/2018 2kb upstream variant|5 prime utr variant benign|likely benign Dystonia; DYT-PRKRA; none provided
Disease Annotations     Click to see Annotation Detail View
dystonia  (IAGP)
dystonia 16  (IAGP)
Hearing Loss  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Dystonia  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:PRKRA
Accession:NM_001316362
Location:5UTRS;EXON

Gene Symbol:PRKRA
Accession:XM_047446138
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQSRHRAEAQPLEREDSGTFSLGKMITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQIHVPTFTFRVTVGDITCTGE
GTSKKLAKHRAAEAAINILKANASICFAVPDPLMPDPSKQPKNQLNPIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYT
TICRLESFMETDKCSRTFFRMYLAFLEEFSW*

Gene Symbol:PRKRA
Accession:NM_003690
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQSRHRAEAQPLEREDSGTFSLGKMITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQIHVPTFTFRVTVGDITCTGE
GTSKKLAKHRAAEAAINILKANASICFAVPDPLMPDPSKQPKNQLNPIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYT
TICRLESFMETGKGASKKQAKRNAAEKFLAKFSNISPENHISLTNVVGHSLGCTWHSLRNSPGEKINLLKRSLLSIPNTD
YIQLLSEIAKEQGFNITYLDIDELSANGQYQCLAELSTSPITVCHGSGISCGNAQSDAAHNALQYLKIIAERK*

Gene Symbol:PRKRA
Accession:NM_001139518
Location:INTRON

Gene Symbol:PRKRA
Accession:XM_011512063
Location:INTRON

Gene Symbol:PRKRA
Accession:NM_001139517
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000399335 CLINVAR
  RCV000407894 CLINVAR
  RCV001130745 CLINVAR
  RCV001594966 CLINVAR
dbSNP (RS) rs62176112 CLINVAR
MedGen C0013421 CLINVAR
  C2677567 CLINVAR
  C3661900 CLINVAR
  CN239439 CLINVAR
NCBI Gene DFNB59 CLINVAR
  PRKRA CLINVAR
OMIM 603424 CLINVAR
  610219 CLINVAR
  612067 CLINVAR