View genomic variant #0000003642

Chromosome X
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.32466728C>A
Published as -
GERP 4.660
Segregation -
DB-ID DMD_000004
dbSNP ID rs267606771
Frequency -
Sources ; clinvar;
Reference 9410897
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.3631G>T p.(Glu1211*) stop_gained - 27/79 - r.(?) -


ClinVar @ MSeqDR

26319
MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009
Becker muscular dystrophy
HGVS variant names NC 000023.10:g.32466728C>A
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:300377.0074
Gene symbol:Gene id. DMD:1756
SO:0001587|nonsense
1
dbSNP ID 267606771
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
CS971709X3246672832466728HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available
rs267606771X3246672832466728C/Aclinically associatedBECKER MUSCULAR DYSTROPHY