Genomic variant #0000009568

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.12725943T>C
Reference -
DB-ID AADACL4_000009
dbSNP ID rs1419298
Frequency 0.155
Allele Count 80
Allele Number 516
Combined Depth 8940
Homozygous 7
Heterozygote 66
Average frequency (large NGS studies) 0.20068 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AADACL4 NM_001013630.1 ./. - c.450-29T>C r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin