Variant #0000763561 (NC_000008.10:g.96044275C>T, NDUFAF6(NM_152416.3):c.250C>T)

Individual ID 00361901
Chromosome 8
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.96044275C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID NDUFAF6_000011
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Anju Shukla
Database submission license No license selected
Created by Anju Shukla
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NDUFAF6 NM_152416.3 +?/. - c.250C>T r.(?) p.(Arg84*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000363129 DNA SEQ-NG - - - 3 Anju Shukla