Genomic variant #0000369184

Individual ID 00000012
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.94577135C>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID ABCA4_000241 See all 3 reported entries
Variant remarks expression cloning midigene splicing construct: no correctly spliced RNA
Reference PubMed: Sangermano 2018
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Frans Cremers




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

ClassClinical     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCA4 NM_000350.2 +/. - 3 c.161G>T r.161_302del p.(Cys54Serfs∗14)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000012 DNA NGS - - ACADVL, ADA, AGL, ATP7B, CYP21A2, DPYD, ETFB, GBA, HGSNAT, IGHMBP2, LAMA2, MYO5A, NHLRC1, NPHS1, SERPINA1, SLC26A2 20 LOVD-team, but with Curator vacancy