Variant #0000821149 (NC_000020.10:g.25290213T>C, ABHD12(NM_001042472.2):c.620-2A>G)

Individual ID 00390159
Chromosome 20
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.25290213T>C
DNA change (hg38) g.25309577T>C
Published as ABHD12 c.620-2A>G,
ISCN -
DB-ID ABHD12_000044 See all 2 reported entries
Variant remarks homozygous
Reference PubMed: Turro 2020
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABHD12 NM_001042472.2 +?/. - c.620-2A>G r.spl p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000391400 DNA SEQ-NG-I blood whole genome sequencing ABHD12 1 LOVD