Genomic variant #0000000081

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.874504C>T
Reference -
DB-ID SAMD11_000027
dbSNP ID rs148469698
Frequency 0.001938
Allele Count 1
Allele Number 516
Combined Depth 9420
Homozygous 0
Heterozygote 1
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.515C>T r.(?) p.(Pro172Leu)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin