Genomic variant #0000000058

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.865628G>A
Reference -
DB-ID SAMD11_000004
dbSNP ID rs41285790
Frequency 0.003876
Allele Count 2
Allele Number 516
Combined Depth 8713
Homozygous 0
Heterozygote 2
Average frequency (large NGS studies) 0.00347 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SAMD11 NM_152486.2 ./. - c.166G>A r.(?) p.(Gly56Ser)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin