Variant #0000829298 (NC_000023.10:g.18687473_18691946del, NC_000023.10(NM_000330.3):c.-1758_52+2664del (RS1))

Individual ID 00396087
Chromosome X
Allele Unknown
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.18687473_18691946del
DNA change (hg38) g.18669353_18673826del
Published as c.(-35)-1723_c.51+2664del4472
ISCN -
DB-ID RS1_000324
Variant remarks error in annotation, exon 1 is ending on nucleotide 52
Reference PubMed: D'Souza
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
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 Anna Tracewska
Date created 2021-12-13 12:50:19 +01:00 (CET)
Date last edited 2024-12-22 10:52:33 +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.-1758_52+2664del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000397326 DNA SEQ - - RS1 1 LOVD


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