View genomic variant #0000003639

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.31196049G>A
Published as -
GERP 4.930
Segregation -
DB-ID DMD_000003
MSCV MSCV_0003639
dbSNP ID rs104894791
Frequency -
Sources ; clinvar;
Reference 8301652
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 0000003639 +/+ c.10262C>T p.(Ala3421Val) missense_variant,splice_region_variant - 71/79 possibly_damaging(0.695) r.(?) tolerated(0.11)
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ClinVar @ MSeqDR

RCVaccession RCV000012027; RCV000276998;
Chromosome X:31196049..31196049
ClinVar Allele ID 26315
Disease database name and identifier MedGen:C0917713, OMIM:300376, Orphanet:ORPHA98895, SNOMED CT:387732009|MedGen:CN169374
ClinVar preferred disease name Becker muscular dystrophy|not specified
HGVS variant names NC 000023.10:g.31196049G>A
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:300377.0070
Gene symbol:Gene id. DMD:1756
Molecular consequence SO:0001583|missense variant, SO:0001627|intron variant, SO:0001634|500B downstream variant
Allele origin germline
dbSNP ID 104894791
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
rs104894791X3119604931196049G/AOMIM phenotype variantsBECKER MUSCULAR DYSTROPHY
CM940364X3119604931196049HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available