RGD:13703152 Rat Genome Database

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Variant: RGD:13703152 -  Homo sapiens

RGD ID: 13703152
RS ID: rs777911169
ClinVar ID: CV538463
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COX10  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 14,110,180
GRCh38 17 14,206,863
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008034.1:g.142462G>A
NC_000017.11:g.14206863G>A
NC_000017.10:g.14110180G>A
NP_001294.2:p.Ala328Thr
More... 		09/22/2016 missense variant conflicting interpretations of pathogenicity|uncertain significance Complex 4 mitochondrial respiratory chain deficiency; Complex IV deficiency; COX deficiency; Cytochrome-c oxidase deficiency; Deficiency of mitochondrial respiratory chain complex4; Mitochondrial complex IV deficiency; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COX10
Accession:NM_001303
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASPHTLSSRLLTGCVGGSVWYLERRTIQDSPHKFLHLLRNVNKQWITFQHFSFLKRMYVTQLNRSHNQQVRPKPEPVA
SPFLEKTSSGQAKAEIYEMRPLSPPSLSLSRKPNEKELIELEPDSVIEDSIDVGKETKEEKRWKEMKLQVYDLPGILARL
SKIKLTALVVSTTAAGFALAPGPFDWPCFLLTSVGTGLASCAANSINQFFEVPFDSNMNRTKNRPLVRGQISPLLAVSFA
TCCAVPGVAILTLGVNPLTGALGLFNIFLYTCCYTPLKRISIANTWVGAVVGAIPPVMGWTAATGSLDAGAFLLGGILYS
WQFPHFNTLSWGLREDYSRGGYCMMSVTHPGLCRRVALRHCLALLVLSAAAPVLDITTWTFPIMALPINAYISYLGFRFY
VDADRRSSRRLFFCSLWHLPLLLLLMLTCKRPSGGGDAGPPPS*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532   PMID:32313153  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000660403 CLINVAR
  RCV002532013 CLINVAR
dbSNP (RS) rs777911169 CLINVAR
MedGen C3661900 CLINVAR
  C5435656 CLINVAR
NCBI Gene COX10 CLINVAR
OMIM 220110 CLINVAR
  602125 CLINVAR
SNOMED CT 67434000 CLINVAR