Variant #0000351488 (NC_000020.10:g.25303998_25304004delins[25305006_25305048;TC], ABHD12(NM_001042472.2):c.379_385delins[GA;317-82_317-40inv])

Individual ID 00151792
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.25303998_25304004delins[25305006_25305048;TC]
DNA change (hg38) -
Published as 379_385delAACTACTinsGATTCCTTATATACCATTGTAGTCTTACTGCTTTTGGTGAACACA
ISCN -
DB-ID ABHD12_000032
Variant remarks -
Reference PubMed: Lerat 2017, Journal: Lerat 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Justine Lerat
Database submission license No license selected
Created by Justine Lerat
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABHD12 NM_001042472.2 +?/. 3 c.379_385delins[GA;317-82_317-40inv] r.(?) p.(Asn127Aspfs*23)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152647 DNA SEQ-NG-IT blood - ABHD12 1 Justine Lerat