Genomic variant #0000009569

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.12726036C>G
Reference -
DB-ID AADACL4_000010
dbSNP ID rs142659885
Frequency 0.007752
Allele Count 4
Allele Number 516
Combined Depth 9435
Homozygous 0
Heterozygote 4
Average frequency (large NGS studies) 0.00254 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AADACL4 NM_001013630.1 ./. - c.514C>G r.(?) p.(His172Asp)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin