Genomic variant #0000124770

Individual ID 00000001
Chromosome 2
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.204267413T>A
Reference -
DB-ID ABI2_000022
dbSNP ID rs140793695
Frequency 0.001938
Allele Count 1
Allele Number 516
Combined Depth 7495
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABI2 NM_005759.4 ./. - c.947T>A r.(?) p.(Leu316His)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin