View genomic variant #0000016353

Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.120917382C>T
Published as -
GERP -
Segregation -
DB-ID SFXN4_000002 See all 2 reported entries
MSCV MSCV_0000265
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 8.0E-5 View details
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 0000016353 ./. - - c.471+1G>A p.? - - - -
SFXN4 00002814 XM_005269525.1 0000016353 ./. - - c.444+1G>A p.? - - - -
SFXN4 00002818 XM_005269526.1 0000016353 ./. - - c.123+1G>A p.? - - - -
SFXN4 00002819 XM_005269527.1 0000016353 ./. - - c.123+1G>A p.? - - - -
SFXN4 00002816 XR_246070.1 0000016353 ./. - - n.533+1G>A p.? - - - -
SFXN4 00002815 XR_246071.1 0000016353 ./. - - n.506+1G>A p.? - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000077776;
Chromosome 10:120917382..120917382
Allele frequencies from ESP 0.00008
Allele frequencies from ExAC 0.00001
ClinVar Allele ID 97531
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.120917382C>T
ClinVar review status criteria provided, single submitter
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:615564.0003
Gene symbol:Gene id. SFXN4:119559
Molecular consequence SO:0001575|splice donor variant
Allele origin germline
dbSNP ID 367932369
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