Genomic variant #0000009565

Individual ID 00000001
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.12722028A>G
Reference -
DB-ID AADACL4_000006
dbSNP ID rs1892065
Frequency 0.124
Allele Count 64
Allele Number 516
Combined Depth 4977
Homozygous 6
Heterozygote 52
Average frequency (large NGS studies) Variant not found in online data sets
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AADACL4 NM_001013630.1 ./. - c.449+163A>G r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin