RGD:11626950 Rat Genome Database

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Variant: RGD:11626950 -  Homo sapiens

RGD ID: 11626950
RS ID: rs765425160
ClinVar ID: CV351824
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NCAPH2  SCO2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 50,962,597
GRCh38 22 50,524,168
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016235.1:g.7272A>G
NC_000022.11:g.50524168T>C
NC_000022.10:g.50962597T>C
NP_001162580.1:p.Lys82Glu
More... 		01/26/2023 3 prime utr variant|missense variant uncertain significance Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency; Complex 4 mitochondrial respiratory chain deficiency; Complex IV deficiency; COX deficiency; CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY; Cytochrome-c oxidase deficiency; Deficiency of mitochondrial respiratory chain complex4; Mitochondrial complex IV deficiency; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2; Myopia 6; Myopia, susceptibility to; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NCAPH2
Accession:XM_017028793
Location:3UTRS;EXON

Gene Symbol:NCAPH2
Accession:XM_011530685
Location:3UTRS;EXON

Gene Symbol:NCAPH2
Accession:XM_005261912
Location:3UTRS;EXON

Gene Symbol:NCAPH2
Accession:NM_152299
Location:3UTRS;EXON

Gene Symbol:NCAPH2
Accession:XM_047441352
Location:3UTRS;EXON

Gene Symbol:NCAPH2
Accession:XM_047441354
Location:3UTRS;EXON

Gene Symbol:NCAPH2
Accession:NM_001185011
Location:3UTRS;EXON

Gene Symbol:NCAPH2
Accession:XM_047441353
Location:3UTRS;EXON

Gene Symbol:SCO2
Accession:NM_001169109
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLTRSPTAWHRLSQLKPRVLPGTLGGQALHLRSWLLSRQGPAETGGQGQPQGPGLRTRLLITGLFGAGLGGAWLALRA
EEERLQQQKRTEALRQAAVGQGDFHLLDHRGRARCKADFRGQWVLMYFGFTHCPDICPDELEKLVQVVRQLEAEPGLPPV
QPVFITVDPERDDVEAMARYVQDFHPRLLGLTGSTKQVAQASHSYRVYYNAGPKDEDQDYIVDHSIAIYLLNPDGLFTDY
YGRSRSAEQISDSVRRHMAAFRSVLS*

Gene Symbol:SCO2
Accession:NM_001169110
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLTRSPTAWHRLSQLKPRVLPGTLGGQALHLRSWLLSRQGPAETGGQGQPQGPGLRTRLLITGLFGAGLGGAWLALRA
EEERLQQQKRTEALRQAAVGQGDFHLLDHRGRARCKADFRGQWVLMYFGFTHCPDICPDELEKLVQVVRQLEAEPGLPPV
QPVFITVDPERDDVEAMARYVQDFHPRLLGLTGSTKQVAQASHSYRVYYNAGPKDEDQDYIVDHSIAIYLLNPDGLFTDY
YGRSRSAEQISDSVRRHMAAFRSVLS*

Gene Symbol:SCO2
Accession:NM_001169111
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLTRSPTAWHRLSQLKPRVLPGTLGGQALHLRSWLLSRQGPAETGGQGQPQGPGLRTRLLITGLFGAGLGGAWLALRA
EEERLQQQKRTEALRQAAVGQGDFHLLDHRGRARCKADFRGQWVLMYFGFTHCPDICPDELEKLVQVVRQLEAEPGLPPV
QPVFITVDPERDDVEAMARYVQDFHPRLLGLTGSTKQVAQASHSYRVYYNAGPKDEDQDYIVDHSIAIYLLNPDGLFTDY
YGRSRSAEQISDSVRRHMAAFRSVLS*

Gene Symbol:SCO2
Accession:NM_005138
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLTRSPTAWHRLSQLKPRVLPGTLGGQALHLRSWLLSRQGPAETGGQGQPQGPGLRTRLLITGLFGAGLGGAWLALRA
EEERLQQQKRTEALRQAAVGQGDFHLLDHRGRARCKADFRGQWVLMYFGFTHCPDICPDELEKLVQVVRQLEAEPGLPPV
QPVFITVDPERDDVEAMARYVQDFHPRLLGLTGSTKQVAQASHSYRVYYNAGPKDEDQDYIVDHSIAIYLLNPDGLFTDY
YGRSRSAEQISDSVRRHMAAFRSVLS*

Gene Symbol:NCAPH2
Accession:NM_014551
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000272600 CLINVAR
  RCV000362533 CLINVAR
  RCV001850821 CLINVAR
  RCV002488735 CLINVAR
dbSNP (RS) rs765425160 CLINVAR
MedGen C5399977 CLINVAR
  C5435656 CLINVAR
  CN517202 CLINVAR
NCBI Gene NCAPH2 CLINVAR
  SCO2 CLINVAR
OMIM 220110 CLINVAR
  604272 CLINVAR
  604377 CLINVAR
  608908 CLINVAR
  611230 CLINVAR
SNOMED CT 67434000 CLINVAR