View genomic variant #0000020354

Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.49059579T>C
Published as -
GERP -
Segregation -
DB-ID NDUFAF3_000003 See all 2 reported entries
MSCV MSCV_0000943
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     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
NDUFAF3 00000951 NM_199069.1 0000020354 ./. - - c.2T>C p.? - - - -
NDUFAF3 00000952 NM_199070.1 0000020354 ./. - - c.-94-200T>C p.(=) - - - -
NDUFAF3 00000950 NM_199073.1 0000020354 ./. - - c.-94-200T>C p.(=) - - - -
NDUFAF3 00000949 NM_199074.1 0000020354 ./. - - c.-94-200T>C p.(=) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000000452; RCV001172148;
Chromosome 3:49059579..49059579
Allele frequencies from ExAC 0.00001
ClinVar Allele ID 15463
Disease database name and identifier MONDO:MONDO:0032623, MedGen:C4748790, OMIM:618240|MedGen:C3661900
ClinVar preferred disease name Mitochondrial complex 1 deficiency, nuclear type 18|not provided
HGVS variant names NC 000003.11:g.49059579T>C
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 ClinGen:CA114267|OMIM:612911.0003
Gene symbol:Gene id. NDUFAF3:25915|LOC129936729:129936729
Molecular consequence SO:0001582|initiator codon variant, SO:0001583|missense variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 121918136
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