Genomic variant #0000500778

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.58196095C>T
Reference -
DB-ID TSFM_000031
dbSNP ID rs139933127
Frequency 0.001938
Allele Count 1
Allele Number 516
Combined Depth 6904
Homozygous -
Heterozygote -
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     
TSFM NM_005726.5 ./. - c.*5729C>T r.(=) p.(=)
AVIL NM_006576.3 ./. - c.1999G>A r.(?) p.(Glu667Lys)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin