Variant #0000535509 (NC_000008.10:g.96060708T>C, NDUFAF6(NM_152416.3):c.738T>C)

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.96060708T>C
DNA change (hg38) g.95048480T>C
Published as NDUFAF6(NM_001330582.1):c.462T>C (p.F154=)
ISCN -
DB-ID NDUFAF6_000009
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) 0.00134 View details
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.738T>C r.(?) p.(Phe246=)