DMD c.430del ;(p.V144Sfs*13)

Variant ID: X-32834684-AC-A

NM_004006.2(DMD):c.430del;(p.V144Sfs*13)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.

Molecular Genetics & Genomic Medicine
Barroso-Gil, Miguel M; Olinger, Eric E; Ramsbottom, Simon A SA; Molinari, Elisa E; Miles, Colin G CG; Sayer, John A JA
Publication Date: 2021-12

Variant appearance in text: DMD: 428delG
PubMed Link: 33486889
Variant Present in the following documents:
  • MGG3-9-e1603.pdf
View BVdb publication page


Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.

Molecular Genetics & Genomic Medicine
Barroso-Gil, Miguel M; Olinger, Eric E; Ramsbottom, Simon A SA; Molinari, Elisa E; Miles, Colin G CG; Sayer, John A JA
Publication Date: 2021-01-24

Variant appearance in text: DMD: 428delG
PubMed Link: 33486889
Variant Present in the following documents:
  • MGG3-9-e1603.pdf
View BVdb publication page