Variant #0000217529 (NC_000023.10:g.31200874A>G, NM_004006.2:c.9955T>C (DMD))

Individual ID 00127946
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.31200874A>G
DNA change (hg38) g.31182757A>G
Published as -
ISCN -
DB-ID DMD_000759 See all 5 reported entries
Variant remarks -
Reference UMD 2376 database
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Laurence Michel-Calemard
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2004-04-20 17:24:16 +02:00 (CEST)
Date last edited 2017-12-10 10:37:05 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DMD NM_004006.2 ?/. 68 c.9955T>C r.(?) p.(Cys3319Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000128414 DNA SEQ - - DMD 1 Laurence Michel-Calemard


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