Genomic variant #0000500774

Individual ID 00000001
Chromosome 12
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.58194954A>G
Reference -
DB-ID TSFM_000027
dbSNP ID rs111647711
Frequency 0.003891
Allele Count 2
Allele Number 514
Combined Depth 5042
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00169 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TSFM NM_005726.5 ./. - c.*4588A>G r.(=) p.(=)
AVIL NM_006576.3 ./. - c.2193T>C r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin