RGD:405139215 Rat Genome Database

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Variant: RGD:405139215 -  Homo sapiens

RGD ID: 405139215
ClinVar ID: CV3072526
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PARK7  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 8,030,974
GRCh38 1 7,970,914
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.10:g.8030974A>C
NP_001116849.1:p.Ile91=
NP_009193.2:p.Ile91=
NM_001123377.2:c.273A>C
More... 		10/25/2023 synonymous variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PARK7
Accession:NM_007262
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASKRALVILAKGAEEMETVIPVDVMRRAGIKVTVAGLAGKDPVQCSRDVVICPDASLEDAKKEGPYDVVVLPGGNLGAQ
NLSESAAVKEILKEQENRKGLIAAICAGPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGT
SFEFALAIVEALNGKEVAAQVKAPLVLKD*

Gene Symbol:PARK7
Accession:XM_005263424
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASKRALVILAKGAEEMETVIPVDVMRRAGIKVTVAGLAGKDPVQCSRDVVICPDASLEDAKKEGPYDVVVLPGGNLGAQ
NLSESAAVKEILKEQENRKGLIAAICAGPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGT
SFEFALAIVEALNGKEVAAQVKAPLVLKD*

Gene Symbol:PARK7
Accession:NM_001123377
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASKRALVILAKGAEEMETVIPVDVMRRAGIKVTVAGLAGKDPVQCSRDVVICPDASLEDAKKEGPYDVVVLPGGNLGAQ
NLSESAAVKEILKEQENRKGLIAAICAGPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGT
SFEFALAIVEALNGKEVAAQVKAPLVLKD*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003619135 CLINVAR
MedGen C1853445 CLINVAR
NCBI Gene PARK7 CLINVAR
OMIM 602533 CLINVAR
  606324 CLINVAR