Variant #0000735946 (NC_000023.10:g.(?_18657808)_(18690223_?)del, NM_000330.3:c.(?_-35)_(*2316_?)del (RS1))

Individual ID 00335321
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.(?_18657808)_(18690223_?)del
DNA change (hg38) g.(?_18639688)_(18672103_?)del
Published as -
ISCN -
DB-ID RS1_000023
Variant remarks large deletion chrX (p22.2-p22.13) including OFD1 and RS1
Reference PubMed: Bravo-Gil 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nereida Bravo Gil
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-03-04 16:18:39 +01:00 (CET)
Date last edited 2024-12-22 10:53:37 +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_6_ c.(?_-35)_(*2316_?)del r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000336550 DNA SEQ-NG - 68-gene panel RS1 1 Nereida Bravo Gil


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