Genomic variant #0000478434

Individual ID 00000001
Chromosome 3
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.151734651G>T
Reference -
DB-ID AADACL2_000001
dbSNP ID rs1520132
Frequency 0.2500
Homozygous 20
Heterozygote 129
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AADACL2 NM_207365.3 ./. - c.138+478G>T - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin