Variant #0000830499 (NC_000023.10:g.18676206_18691680del, NC_000023.10(NM_000330.3):c.-1492_53-421del (RS1))

Individual ID 00397048
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.18676206_18691680del
DNA change (hg38) g.18658086_18673560del
Published as del ex1
ISCN -
DB-ID RS1_000422
Variant remarks -
Reference PubMed: Chen 2020
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation ?
Frequency 1/90 cases RS
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 Anna Tracewska
Date created 2021-12-19 19:23:13 +01:00 (CET)
Date last edited 2024-12-22 10:54:52 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RS1 NM_000330.3 +/. _1_1i c.-1492_53-421del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000398288 DNA SEQ;SEQ-NG blood Sanger-DNA sequencing of RS1 and targeted next-generation sequencing RS1 1 LOVD


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