Variant #0000735194 (NC_000020.10:g.25282967C>T, ABHD12(NM_001042472.2):c.1045G>A)

Individual ID 00100101
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.25282967C>T
DNA change (hg38) g.25302331C>T
Published as -
ISCN -
DB-ID ABHD12_000013 See all 2 reported entries
Variant remarks -
Reference PubMed: Maranha 2015, Journal: Maranhao 2015
ClinVar ID -
dbSNP ID rs746748
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.04159 View details
Owner LOVD
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     
ABHD12 NM_001042472.2 +?/. - c.1045G>A r.(?) p.(Ala349Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000100505 DNA SEQ WBC - USH2A 2 James Hejtmancik