Genomic variant #0000118884

Individual ID 00074357
Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.31986774C>T
DNA change (hg38) g.31968657C>T
Published as 6647-143G>A
ISCN -
DB-ID DMD_001043 See all 11 reported entries
Variant remarks -
Reference PubMed: Baranzini 1997
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 5/12 cases DMD
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DMD NM_004006.2 -/. 44i c.6439-143G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000074518 DNA SSCA - - DMD 1 Johan den Dunnen