Variant #0000211428 (NC_000023.10:g.32716112T>C, DMD(NM_004006.2):c.835A>G)

Individual ID 00122140
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.32716112T>C
DNA change (hg38) g.32697995T>C
Published as 1043A>G
ISCN -
DB-ID DMD_000073
Variant remarks not in 150 control chromosomes
Reference PubMed: Ortiz-Lopez, OMIM:var0073
ClinVar ID ClinVar-RCV000012030
dbSNP ID rs128627255
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 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 +/. 9 c.835A>G r.(?) p.(Thr279Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000122608 DNA PCR;SSCA - - DMD 1 Johan den Dunnen