Variant #0000813600 (NC_000006.11:g.31664801C>T, ABHD16A(NM_021160.2):c.353G>A)

Individual ID 00384971
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.31664801C>T
DNA change (hg38) g.31697024C>T
Published as -
ISCN -
DB-ID ABHD16A_000007 See all 4 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) 1.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABHD16A NM_021160.2 +?/. - c.353G>A r.(?) p.(Arg118His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000386199 DNA SEQ;SEQ-NG - - - 1 Johan den Dunnen