RGD:11525915 Rat Genome Database

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Variant: RGD:11525915 -  Homo sapiens

RGD ID: 11525915
RS ID: rs150601238
ClinVar ID: CV246966
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UCHL1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 41,263,776
GRCh38 4 41,261,759
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012931.1:g.9879A>C
NC_000004.12:g.41261759A>C
NC_000004.11:g.41263776A>C
NP_004172.2:p.Met124Leu
More... 		04/27/2017 missense variant likely benign|uncertain significance AllHighlyPenetrant; none provided; Parkinson disease 5; Parkinson disease 5, susceptibility to
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:UCHL1
Accession:NM_004181
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQLKPMEINPEMLNKVLSRLGVAGQWRFVDVLGLEEESLGSVPAPACALLLLFPLTAQHENFRKKQIEELKGQEVSPKVY
FMKQTIGNSCGTIGLIHAVANNQDKLGFEDGSVLKQFLSETEKLSPEDRAKCFEKNEAIQAAHDAVAQEGQCRVDDKVNF
HFILFNNVDGHLYELDGRMPFPVNHGASSEDTLLKDAAKVCREFTEREQGEVRFSAVALCKAA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000239068 CLINVAR
  RCV001144813 CLINVAR
  RCV002057266 CLINVAR
dbSNP (RS) rs150601238 CLINVAR
MedGen C3150899 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene UCHL1 CLINVAR
OMIM 191342 CLINVAR
  613643 CLINVAR