Genomic variant #0000000073

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.871206C>T
Reference -
DB-ID SAMD11_000019
dbSNP ID rs139857993
Frequency 0.005814
Allele Count 3
Allele Number 516
Combined Depth 8692
Homozygous 0
Heterozygote 3
Average frequency (large NGS studies) 0.00023 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SAMD11 NM_152486.2 ./. - c.360C>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin