Variant #0000789928 (NC_000023.10:g.31362638_31362639ins[T;30939526_31362638], DMD(NM_004006.2):c.9163+4035_*2691{2})

Individual ID 00376350
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.31362638_31362639ins[T;30939526_31362638]
DNA change (hg38) g.31344521_31344522ins[T;30921409_31344521]
Published as hg19 30939526–31362638dup
ISCN -
DB-ID DMD_068312 See all 2 reported entries
Variant remarks duplication exons 62-79
Reference PubMed: Chin 2021
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DMD NM_004006.2 -?/. 61i_79_ c.9163+4035_*2691{2} r.(?) p.(=)
FTHL17 NM_031894.2 -?/. _1_ c.-100_*161{2} r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000377553 DNA MLPA;SEQ;SEQ-ON;SEQ-NG - - DMD 1 Johan den Dunnen