Genomic variant #0000000080

Individual ID 00000001
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.874415C>T
Reference -
DB-ID SAMD11_000026
dbSNP ID rs74047412
Frequency 0.001938
Allele Count 1
Allele Number 516
Combined Depth 9241
Homozygous 0
Heterozygote 1
Average frequency (large NGS studies) 0.00046 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SAMD11 NM_152486.2 ./. - c.431-5C>T r.spl? p.?



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin