View genomic variant #0000003641

Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.32456489G>A
Published as -
GERP 5.820
Segregation -
DB-ID DMD_000007
MSCV MSCV_0003641
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

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
DMD 00003242 NM_004006.2 0000003641 +/+ c.3940C>T p.(Arg1314*) stop_gained - 29/79 - r.(?) -
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ClinVar @ MSeqDR

RCVaccession RCV000012034; RCV000201024; RCV000183404;
Chromosome X:32456489..32456489
ClinVar Allele ID 26322
Disease database name and identifier MedGen:C0013264, OMIM:310200, Orphanet:ORPHA98896, SNOMED CT:76670001|MedGen:C0917713, OMIM:300376, Orphanet:ORPHA98895, SNOMED CT:387732009|MedGen:CN517202
ClinVar preferred disease name Duchenne muscular dystrophy|Becker muscular dystrophy|not provided
HGVS variant names NC 000023.10:g.32456489G>A
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:300377.0077
Gene symbol:Gene id. DMD:1756
Molecular consequence SO:0001587|nonsense
Allele origin germline
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