Genomic variant #0000000088

Individual ID 00000001
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.874816del
Reference -
DB-ID chr1_000029
dbSNP ID -
Frequency -
Allele Count -
Allele Number -
Combined Depth -
Homozygous -
Heterozygote -
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.682del r.(?) p.(Pro229Leufs*10)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin