View genomic variant #0000003640

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) 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
MSCV MSCV_0003640
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

1 entry on 1 page. Showing entry 1.
Legend  

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 0000003640 -/- c.8762A>G p.(His2921Arg) missense_variant - 59/79 benign(0.402) r.(?) tolerated(0.59)
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000012020; RCV000242837; RCV000355558; RCV000458193; RCV000080812;
Chromosome X:31496398..31496398
Allele frequencies from ESP 0.0206
Allele frequencies from ExAC 0.02629
Allele frequencies from TGP 0.0148
ClinVar Allele ID 26308
Disease database name and identifier 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
ClinVar preferred disease name Duchenne muscular dystrophy|Becker muscular dystrophy|Dilated cardiomyopathy 3B|not specified|Cardiovascular phenotype
HGVS variant names NC 000023.10:g.31496398T>C
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Benign(6), Likely benign(2), Uncertain significance(1)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ARUP Laboratories, Molecular Genetics and Genomics:72851|Illumina Clinical Services Laboratory, Illumina:99122|OMIM Allelic Variant:300377.0063
Gene symbol:Gene id. DMD:1756
Molecular consequence SO:0001583|missense variant
Allele origin germline
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