Genomic variant #0000000087

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.874816_874817insCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCT
Reference -
DB-ID SAMD11_000033
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.682_683insCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCT r.(?) p.(Asp236Glyfs*235)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin