Genomic variant #0000003641

Chromosome X
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.32456489G>A
Published as -
GERP 5.820
Segregation -
DB-ID DMD_000007
dbSNP ID rs5030730
Frequency -
Sources ; clinvar;
Reference 11039581
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
DMD NM_004006.2 +/+ c.3940C>T p.(Arg1314*) stop_gained - 29/79 - r.(?) -


ClinVar @ MSeqDR

26322
MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009|MedGen:CN517202
Duchenne muscular dystrophy|Becker muscular dystrophy|not provided
HGVS variant names NC 000023.10:g.32456489G>A
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:300377.0077
Gene symbol:Gene id. DMD:1756
SO:0001587|nonsense
1
dbSNP ID 5030730
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs5030730X3245648932456489G/AOMIM phenotype variantsBECKER MUSCULAR DYSTROPHY
CS002446X3245648932456489HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available
CM100263X3245648932456489HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available