Variant #0000813602 (NC_000006.11:g.31656524A>C, ABHD16A(NM_021160.2):c.1226T>G)

Individual ID 00384973
Chromosome 6
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.31656524A>C
DNA change (hg38) g.31688747A>C
Published as -
ISCN -
DB-ID ABHD16A_000003 See all 2 reported entries
Variant remarks -
Reference PubMed: Lemire 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABHD16A NM_021160.2 +?/. - c.1226T>G r.(?) p.(Leu409Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000386201 DNA SEQ;SEQ-NG - - - 1 Johan den Dunnen