Genomic variant #0000000086

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.874779_874826del
Reference -
DB-ID SAMD11_000032
dbSNP ID rs568340123
Frequency 0.052
Allele Count 27
Allele Number 516
Combined Depth 7644
Homozygous 0
Heterozygote 27
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     
SAMD11 NM_152486.2 ./. - c.645_692del r.(?) p.(Gly220_His235del)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin