Variant #0000152691 (NC_000023.10:g.107759521_108908918del, ACSL4(NM_022977.2):c.1439-195_*1127737del)

Individual ID 00093461
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.107759521_108908918del
DNA change (hg38) -
Published as COL4A5 IVS2_ACSL4 IVS12 del
ISCN -
DB-ID COL4A5_000981 See all 3 reported entries
Variant remarks fusion transcript COL4A5_ACSL4
Reference PubMed: Rodriguez 2010, PubMed: Meloni 2002, PubMed: Piccini 1998
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     
ACSL4 NM_022977.2 +/. 12i c.1439-195_*1127737del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000093629 DNA PCR;SEQ;Southern - - ACSL4, COL4A5 2 Judy Savige