RGD:13621832 Rat Genome Database

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Variant: RGD:13621832 -  Homo sapiens

RGD ID: 13621832
RS ID: rs181953896
ClinVar ID: CV518832
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SUCLG1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 84,668,550
GRCh38 2 84,441,426
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016755.1:g.23037A>G
NC_000002.12:g.84441426T>C
NC_000002.11:g.84668550T>C
NP_003840.2:p.Ile118Val
More... 		11/27/2017 missense variant uncertain significance 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: I to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTATLAAAADIATMVSGSSGLAAARLLSRSFLLPQNGIRHCSYTASRQHLYVDKNTKIICQGFTGKQGTFHSQQALEYGT
KLVGGTTPGKGGQTHLGLPVFNTVKEAKEQTGATASVVYVPPPFAAAAINEAIEAEIPLVVCITEGIPQQDMVRVKHKLL
RQEKTRLIGPNCPGVINPGECKIGIMPGHIHKKGRIGIVSRSGTLTYEAVHQTTQVGLGQSLCVGIGGDPFNGTDFIDCL
EIFLNDSATEGIILIGEIGGNAEENAAEFLKQHNSGPNSKPVVSFIAGLTAPPGRRMGHAGAIIAGGKGGAKEKISALQS
AGVVVSMSPAQLGTTIYKEFEKRKML*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000648993 CLINVAR
  RCV003313126 CLINVAR
dbSNP (RS) rs181953896 CLINVAR
MedGen C3151476 CLINVAR
  C3661900 CLINVAR
NCBI Gene SUCLG1 CLINVAR
OMIM 245400 CLINVAR
  611224 CLINVAR