Genomic variant #0000500780

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.58196118A>G
Reference -
DB-ID TSFM_000033
dbSNP ID rs143252193
Frequency 0.003876
Allele Count 2
Allele Number 516
Combined Depth 6437
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00415 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TSFM NM_005726.5 ./. - c.*5752A>G r.(=) p.(=)
AVIL NM_006576.3 ./. - c.1976T>C r.(?) p.(Ile659Thr)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin