Genomic variant #0000571381

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.41688732C>T
Reference -
DB-ID NDUFAF1_000012
dbSNP ID rs35227875
Frequency 0.025
Allele Count 13
Allele Number 516
Combined Depth 7637
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.03206 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NDUFAF1 NM_016013.3 ./. - c.526G>A r.(?) p.(Glu176Lys)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin