Variant #0000249755 (NC_000008.10:g.96047685A>G, NDUFAF6(NM_152416.3):c.301A>G)

Chromosome 8
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.96047685A>G
DNA change (hg38) g.95035457A>G
Published as NDUFAF6(NM_152416.4):c.301A>G (p.K101E)
ISCN -
DB-ID NDUFAF6_000003
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NDUFAF6 NM_152416.3 ?/. - c.301A>G r.(?) p.(Lys101Glu)