View genomic variant #0000020365

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.49060799G>C
Published as -
GERP -
Segregation -
DB-ID NDUFAF3_000022
MSCV MSCV_0020365
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 0000020365 ./. - - c.*194G>C p.(=) - - - -
NDUFAF3 00000952 NM_199070.1 0000020365 ./. - - c.*194G>C p.(=) - - - -
NDUFAF3 00000950 NM_199073.1 0000020365 ./. - - c.*194G>C p.(=) - - - -
NDUFAF3 00000949 NM_199074.1 0000020365 ./. - - c.*194G>C p.(=) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000393605;
Chromosome 3:49060799..49060799
Allele frequencies from TGP 0.00120
ClinVar Allele ID 295381
Disease database name and identifier MONDO:MONDO:0100224, MedGen:CN257533, OMIM:252010
ClinVar preferred disease name Mitochondrial complex I deficiency, nuclear type 1
HGVS variant names NC 000003.11:g.49060799G>C
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA10619045
Gene symbol:Gene id. NDUFAF3:25915
Molecular consequence SO:0001624|3 prime UTR variant
Allele origin germline
dbSNP ID 78116829
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