View genomic variant #0000003643

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.32716112T>C
Published as -
GERP 5.630
Segregation -
DB-ID DMD_000006
MSCV MSCV_0003643
dbSNP ID rs128627255
Frequency -
Sources ; clinvar;
Reference 9170407
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.
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 0000003643 +/+ c.835A>G p.(Thr279Ala) missense_variant - 9/79 possibly_damaging(0.764) r.(?) tolerated(0.08)
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000012030;
Chromosome X:32716112..32716112
ClinVar Allele ID 26318
Disease database name and identifier MedGen:C3668940, OMIM:302045
ClinVar preferred disease name Dilated cardiomyopathy 3B
HGVS variant names NC 000023.10:g.32716112T>C
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:300377.0073
Gene symbol:Gene id. DMD:1756
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 128627255
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
rs128627255X3271611232716112T/COMIM phenotype variantsCARDIOMYOPATHY, DILATED, 3B
CM970419X3271611232716112HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available