Genomic variant #0000000090

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.874865del
Reference -
DB-ID SAMD11_000034
dbSNP ID rs141512630
Frequency 0.012
Allele Count 6
Allele Number 516
Combined Depth 5292
Homozygous 0
Heterozygote 6
Average frequency (large NGS studies) 0.07596 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SAMD11 NM_152486.2 ./. - c.706+25del r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin