Variant #0000211131 (NC_000023.10:g.33431667C>T, DMD(NM_004006.2):c.-202238G>A)

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) g.33413550C>T
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 (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DMD NM_004006.2 -/. _0 c.-202238G>A r.(?) p.(=)