Variant #0000211691 (NC_000023.10:g.29949219_31144301del, NM_004006.2:c.11046+458_*1190817del (DMD))

Individual ID 00122371
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.29949219_31144301del
DNA change (hg38) g.29931102_31126184del
Published as -
ISCN -
DB-ID DMD_000533 See all 7 reported entries
Variant remarks breakpoint in intron 8 IL1RAPL1 gene (antisense strand), RNA contains new 3' sequence replacing ex79
Reference PubMed: Jin 2000, PubMed: Greener 2002, GenBank AF181286.1
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2002-07-01 12:00:00 +02:00 (CEST)
Date last edited 2024-02-21 18:50:10 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GK NM_001205019.1 +/. _1_21_ c.-179_*2720{0} r.0 p.0
DMD NM_004006.2 +/. 78i_ c.11046+458_*1190817del r.-244_11046::[AF181286.1:r.1_369] p.Asp3683Alafs*6
IL1RAPL1 NM_014271.3 +/. 8i_ c.1058-10549_*80{0} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000122839 DNA PCR;RT-PCR;SEQ - - DMD, IL1RAPL1 1 Johan den Dunnen


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