Genomic variant #0000234825

Individual ID 00000001
Chromosome 7
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.73737313C>T
Reference -
DB-ID ABHD11_000002
dbSNP ID rs6460052
Frequency 0.3882
Homozygous 57
Heterozygote 150
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABHD11 NM_001145364.1 ./. - c.463-203G>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin