View genomic variant #0000000263

Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type ins
DNA change (genomic) (Relative to hg19 / GRCh37) g.120907365_120907366insA
Published as -
GERP -
Segregation -
DB-ID SFXN4_000003
MSCV MSCV_0000263
dbSNP ID -
Frequency -
Sources ;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

6 entries on 1 page. Showing entries 1 - 6.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
SFXN4 00002817 NM_213649.1 0000000263 ./. - 12/14 c.739_740insT p.(Arg247Metfs*19) - frameshift_variant - -
SFXN4 00002814 XM_005269525.1 0000000263 ./. - 11/13 c.712_713insT p.(Arg238Metfs*19) - frameshift_variant - -
SFXN4 00002818 XM_005269526.1 0000000263 ./. - 12/14 c.391_392insT p.(Arg131Metfs*19) - frameshift_variant - -
SFXN4 00002819 XM_005269527.1 0000000263 ./. - 12/14 c.391_392insT p.(Arg131Metfs*19) - frameshift_variant - -
SFXN4 00002816 XR_246070.1 0000000263 ./. - - n.801_802insT - - - - -
SFXN4 00002815 XR_246071.1 0000000263 ./. - - n.774_775insT - - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000077775;
Chromosome 10:120907365..120907366
ClinVar Allele ID 97530
Disease database name and identifier MONDO:MONDO:0014261, MedGen:C3810001, OMIM:615578, Orphanet:ORPHA391348
ClinVar preferred disease name Combined oxidative phosphorylation deficiency 18
HGVS variant names NC 000010.10:g.120907366dup
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type Duplication
Sequence Ontology for variant type SO:1000035
Variant clinical sources reported OMIM Allelic Variant:615564.0002
Gene symbol:Gene id. SFXN4:119559
Molecular consequence SO:0001589|frameshift variant, SO:0001619|non-coding transcript variant
Allele origin germline
dbSNP ID 1554886159
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