View genomic variant #0000020357

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.49059930G>C
Published as -
GERP -
Segregation -
DB-ID NDUFAF3_000001 See all 2 reported entries
MSCV MSCV_0000945
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 0000020357 ./. - - c.229G>C p.(Gly77Arg) - - - -
NDUFAF3 00000952 NM_199070.1 0000020357 ./. - - c.58G>C p.(Gly20Arg) - - - -
NDUFAF3 00000950 NM_199073.1 0000020357 ./. - - c.58G>C p.(Gly20Arg) - - - -
NDUFAF3 00000949 NM_199074.1 0000020357 ./. - - c.58G>C p.(Gly20Arg) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000000450;
Chromosome 3:49059930..49059930
ClinVar Allele ID 15461
Disease database name and identifier MONDO:MONDO:0032623, MedGen:C4748790, OMIM:618240
ClinVar preferred disease name Mitochondrial complex 1 deficiency, nuclear type 18
HGVS variant names NC 000003.11:g.49059930G>C
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA114263|OMIM:612911.0001
Gene symbol:Gene id. NDUFAF3:25915|LOC129936731:129936731
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 121918134
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