Genomic variant #0000211356

Individual ID 00122076
Chromosome X
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.33229848T>C
DNA change (hg38) g.33211731T>C
Published as -176A>G
ISCN -
DB-ID DMD_001008
Variant remarks -
Reference PubMed: Tuffery 1993
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/13
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Mireille Claustres




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 -/. _1 c.-419A>G benign r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000122544 DNA SSCA - - DMD 1 Mireille Claustres