Variant #0000230706 (NC_000023.10:g.(32632518_32662406)_(32717219_32827702)dup, NC_000023.10(NM_004006.2):c.(557_831+10)_(1174_1384)dup (DMD))

Individual ID 00139664
Chromosome X
Allele Unknown
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.(32632518_32662406)_(32717219_32827702)dup
DNA change (hg38) g.(32614401_32644289)_(32699102_32809585)dup
Published as c.(649+1_650-1)_(1331+1_1332-1)dup
ISCN -
DB-ID DMD_020811 See all 35 reported entries
Variant remarks -
Reference PubMed: Schwartz 2004
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marianne Schwartz
Database submission license No license selected
Created by Marianne Schwartz
Date created 2004-12-21 12:00:00 +01:00 (CET)
Date last edited 2022-04-05 19:47:05 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DMD NM_004006.2 +/. 7i_11i c.(557_831+10)_(1174_1384)dup r.(650_1331dup) p.(fs*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000140504 DNA MLPA - - DMD 1 Marianne Schwartz


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