Variant #0000535508 (NC_000008.10:g.96059304A>G, NDUFAF6(NM_152416.3):c.663A>G)

Chromosome 8
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.96059304A>G
DNA change (hg38) g.95047076A>G
Published as NDUFAF6(NM_001330582.1):c.387A>G (p.P129=), NDUFAF6(NM_152416.3):c.663A>G (p.P221=)
ISCN -
DB-ID NDUFAF6_000007 See all 2 reported entries
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) 0.00139 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NDUFAF6 NM_152416.3 -?/. - c.663A>G r.(?) p.(Pro221=)