Variant #0000678456 (NC_000008.10:g.96059315_96059322del, NDUFAF6(NM_152416.3):c.674_681del)

Chromosome 8
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.96059315_96059322del
DNA change (hg38) -
Published as NDUFAF6(NM_001354525.1):c.218_225delGCAGAAGA (p.S73Kfs*26)
ISCN -
DB-ID NDUFAF6_000010
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NDUFAF6 NM_152416.3 +?/. - c.674_681del r.(?) p.(Ser225LysfsTer26)