RGD:8559979 Rat Genome Database

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Variant: RGD:8559979 -  Homo sapiens

RGD ID: 8559979
RS ID: rs104894555
ClinVar ID: CV22562
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COX10  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 14,005,522
GRCh38 17 14,102,205
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.37804C>A
NC_000017.11:g.14102205C>A
NC_000017.10:g.14005522C>A
NP_001294.2:p.Thr196Lys
More... 		06/11/2015 missense|missense variant pathogenic MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COX10
Accession:NM_001303
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 196
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASPHTLSSRLLTGCVGGSVWYLERRTIQDSPHKFLHLLRNVNKQWITFQHFSFLKRMYVTQLNRSHNQQVRPKPEPVA
SPFLEKTSSGQAKAEIYEMRPLSPPSLSLSRKPNEKELIELEPDSVIEDSIDVGKETKEEKRWKEMKLQVYDLPGILARL
SKIKLTALVVSTTAAGFALAPGPFDWPCFLLTSVGKGLASCAANSINQFFEVPFDSNMNRTKNRPLVRGQISPLLAVSFA
TCCAVPGVAILTLGVNPLTGALGLFNIFLYTCCYTPLKRISIANTWVGAVVGAIPPVMGWTAATGSLDAGAFLLGGILYS
WQFPHFNALSWGLREDYSRGGYCMMSVTHPGLCRRVALRHCLALLVLSAAAPVLDITTWTFPIMALPINAYISYLGFRFY
VDADRRSSRRLFFCSLWHLPLLLLLMLTCKRPSGGGDAGPPPS*
Variant Samples
Additional References at PubMed
PMID:12928484  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000007958 CLINVAR
dbSNP (RS) rs104894555 CLINVAR
MedGen C5436682 CLINVAR
NCBI Gene COX10 CLINVAR
OMIM 602125 CLINVAR
  619046 CLINVAR
OMIM Allele 602125.0002 CLINVAR