Genomic variant #0000009571

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.12726169G>A
Reference -
DB-ID AADACL4_000012
dbSNP ID rs146900669
Frequency 0.00969
Allele Count 5
Allele Number 516
Combined Depth 9547
Homozygous 0
Heterozygote 5
Average frequency (large NGS studies) 0.00477 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AADACL4 NM_001013630.1 ./. - c.647G>A r.(?) p.(Arg216Gln)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin