Genomic variant #0000211131

Chromosome X
Allele Parent #1
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.33431667C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID DMD_000933
Variant remarks -
Reference Affymetrix-2967194
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0.07
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 -/. _0 c.-202238G>A r.(?) p.(=)