View genomic variant #0000003640

Chromosome X
Allele Unknown
Affects function (reported) Does not affect function
Affects function (concluded) Does not affect function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.31496398T>C
Published as -
GERP 2.920
Segregation -
DB-ID DMD_000005
dbSNP ID rs1800279
Frequency -
Sources ; clinvar;
Reference 25333069;7881286;23757202
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.02055 View details
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.8762A>G p.(His2921Arg) missense_variant - 59/79 benign(0.402) r.(?) tolerated(0.59)


ClinVar @ MSeqDR

0.0206
0.02629
0.0148
26308
MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736
Duchenne muscular dystrophy|Becker muscular dystrophy|Dilated cardiomyopathy 3B|not specified|Cardiovascular phenotype
HGVS variant names NC 000023.10:g.31496398T>C
criteria provided, conflicting interpretations
Clinical Significance
single nucleotide variant
SO:0001483
ARUP Laboratories, Molecular Genetics and Genomics:72851,Illumina Clinical Services Laboratory,Illumina:99122,OMIM Allelic Variant:300377.0063
Gene symbol:Gene id. DMD:1756
SO:0001583|missense variant
1
dbSNP ID 1800279
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
rs1800279X3149639831496398T/CC0.0120555OMIM phenotype variantsBECKER MUSCULAR DYSTROPHY