View genomic variant #0000003639

Chromosome X
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.31196049G>A
Published as -
GERP 4.930
Segregation -
DB-ID DMD_000003
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
DMD NM_004006.2 +/+ c.10262C>T p.(Ala3421Val) missense_variant,splice_region_variant - 71/79 possibly_damaging(0.695) r.(?) tolerated(0.11)


ClinVar @ MSeqDR

26315
MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009|MedGen:CN169374
Becker muscular dystrophy|not specified
HGVS variant names NC 000023.10:g.31196049G>A
criteria provided, conflicting interpretations
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:300377.0070
Gene symbol:Gene id. DMD:1756
SO:0001583|missense variant,SO:0001627|intron variant,SO:0001634|500B downstream variant
1
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