Variant #0000832288 (NC_000023.10:g.85116185_85302566del, NM_000390.2:c.-30_*3450del (CHM))

Individual ID 00398442
Chromosome X
Allele Maternal (inferred)
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.85116185_85302566del
DNA change (hg38) -
Published as c.(?_-1)_(*1_?)del
ISCN -
DB-ID CHM_000589 See all 3 reported entries
Variant remarks -
Reference PubMed: McLaren 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2022-01-05 04:00:26 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
CHM NM_000390.2 +/. 1_15 c.-30_*3450del r.? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000399688 DNA SEQ-NG - Targeted NGS of ocular genes (Retinal Dystrophy Panel v8; 244 genes) TaqMan qPCR analysis (exons 4 and 9 sampled) CHM 1 LOVD


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