Genomic variant #0000009572

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.12726317C>T
Reference -
DB-ID AADACL4_000013
dbSNP ID rs58218425
Frequency 0.041
Allele Count 21
Allele Number 516
Combined Depth 9961
Homozygous 0
Heterozygote 21
Average frequency (large NGS studies) 0.04229 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AADACL4 NM_001013630.1 ./. - c.795C>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin