RGD:10058921 Rat Genome Database

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Variant: RGD:10058921 -  Homo sapiens

RGD ID: 10058921
RS ID: rs143030960
ClinVar ID: CV200025
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SUCLG1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 84,670,490
GRCh38 2 84,443,366
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_016755.1:g.21097G>A
NC_000002.12:g.84443366C>T
NC_000002.11:g.84670490C>T
NP_003840.2:p.Gly79Asp
More... 		03/23/2020 missense variant pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance infancy AllHighlyPenetrant; mitochondrial DNA depletion; Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria); none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SUCLG1
Accession:NM_003849
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTATLAAAADIATMVSGSSGLAAARLLSRSFLLPQNGIRHCSYTASRQHLYVDKNTKIICQGFTGKQGTFHSQQALEYDT
KLVGGTTPGKGGQTHLGLPVFNTVKEAKEQTGATASVIYVPPPFAAAAINEAIEAEIPLVVCITEGIPQQDMVRVKHKLL
RQEKTRLIGPNCPGVINPGECKIGIMPGHIHKKGRIGIVSRSGTLTYEAVHQTTQVGLGQSLCVGIGGDPFNGTDFIDCL
EIFLNDSATEGIILIGEIGGNAEENAAEFLKQHNSGPNSKPVVSFIAGLTAPPGRRMGHAGAIIAGGKGGAKEKISALQS
AGVVVSMSPAQLGTTIYKEFEKRKML*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000239306 CLINVAR
  RCV000369613 CLINVAR
  RCV000390394 CLINVAR
  RCV000428598 CLINVAR
  RCV003955118 CLINVAR
dbSNP (RS) rs143030960 CLINVAR
MedGen C0342782 CLINVAR
  C3151476 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SUCLG1 CLINVAR
OMIM 245400 CLINVAR
  611224 CLINVAR