Genomic variant #0000212031

Individual ID 00122672
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.31496426T>C
DNA change (hg38) g.31478309T>C
Published as -
ISCN -
DB-ID DMD_000061 See all 19 reported entries
Variant remarks -
Reference PubMed: Prior 2005
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.03153 View details
Owner Franziska Joncourt




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 ?/. 59 c.8734A>G VUS r.(?) p.(Asn2912Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000123140 DNA SSCA - - DMD 2 Franziska Joncourt