View genomic variant #0000016267

Chromosome 10
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.101470858_101470859insAA
Published as -
GERP -
Segregation -
DB-ID ENTPD7_000015
MSCV MSCV_0016267
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

4 entries on 1 page. Showing entries 1 - 4.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

DNA change (cDNA)     

Exon     

Protein     

GVS function     

Splice distance     

Position     

PolyPhen     

RNA change     

SIFT     
COX15 00000083 NM_004376.5 0000016267 ./. - c.*2312_*2313insTT - p.(=) - - - - r.(=) -
ENTPD7 00004979 NM_020354.3 0000016267 ./. - c.*6418_*6419insAA - p.(=) - - - - r.(=) -
COX15 00000084 NM_078470.4 0000016267 ./. - c.*3485_*3486insTT - p.(=) - - - - r.(=) -
COX15 00000082 XM_005269539.1 0000016267 ./. - c.1101+5246_1101+5247insTT - p.(=) - - - - r.(=) -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000361237;
Chromosome 10:101470858..101470859
ClinVar Allele ID 317617
Disease database name and identifier MONDO:MONDO:0009068, MedGen:C5435656, OMIM:220110, Orphanet:ORPHA254905, SNOMED CT:67434000
ClinVar preferred disease name Mitochondrial complex IV deficiency
HGVS variant names NC 000010.10:g.101470866dup
ClinVar review status criteria provided, single submitter
Clinical Significance Benign
Variant type Duplication
Sequence Ontology for variant type SO:1000035
Variant clinical sources reported Illumina Clinical Services Laboratory, Illumina:496090
Gene symbol:Gene id. COX15:1355|ENTPD7:57089
Molecular consequence SO:0001619|non-coding transcript variant, SO:0001624|3 prime UTR variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 11405417
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000264324;
Chromosome 10:101470858..101470859
ClinVar Allele ID 311923
Disease database name and identifier MONDO:MONDO:0009068, MedGen:C5435656, OMIM:220110, Orphanet:ORPHA254905, SNOMED CT:67434000
ClinVar preferred disease name Mitochondrial complex IV deficiency
HGVS variant names NC 000010.10:g.101470865 101470866dup
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type Duplication
Sequence Ontology for variant type SO:1000035
Variant clinical sources reported Illumina Clinical Services Laboratory, Illumina:496092
Gene symbol:Gene id. COX15:1355|ENTPD7:57089
Molecular consequence SO:0001619|non-coding transcript variant, SO:0001624|3 prime UTR variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 11405417
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None