Genomic variant #0000571380

Individual ID 00000001
Chromosome 15
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.41688700T>C
Reference -
DB-ID NDUFAF1_000011
dbSNP ID rs34979001
Frequency 0.007752
Allele Count 4
Allele Number 516
Combined Depth 8371
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.01761 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NDUFAF1 NM_016013.3 ./. - c.558A>G r.(?) p.(Ile186Met)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin