Genomic variant #0000342427

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.111987184A>G
Reference -
DB-ID ABHD10_000004
dbSNP ID rs1282730
Frequency 0.1779
Homozygous 13
Heterozygote 95
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABHD10 NM_018394.3 ./. - c.576+133A>G - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin