Genomic variant #0000571383

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.41688912C>A
Reference -
DB-ID NDUFAF1_000014
dbSNP ID -
Frequency 0.001938
Allele Count 1
Allele Number 516
Combined Depth 7640
Homozygous 0
Heterozygote 1
Average frequency (large NGS studies) Variant not found in online data sets
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NDUFAF1 NM_016013.3 ./. - c.346G>T r.(?) p.(Val116Phe)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin