Genomic variant #0000000059

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.865694C>T
Reference -
DB-ID SAMD11_000005
dbSNP ID rs9988179
Frequency 0.016
Allele Count 8
Allele Number 516
Combined Depth 8943
Homozygous 0
Heterozygote 8
Average frequency (large NGS studies) 0.00732 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SAMD11 NM_152486.2 ./. - c.232C>T r.(?) p.(His78Tyr)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin