Genomic variant #0000500777

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.58195900C>G
Reference -
DB-ID TSFM_000030
dbSNP ID rs11172345
Frequency 0.001938
Allele Count 1
Allele Number 516
Combined Depth 4066
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00584 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TSFM NM_005726.5 ./. - c.*5534C>G r.(=) p.(=)
AVIL NM_006576.3 ./. - c.2151+43G>C r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin