View genomic variant #0000003643

Chromosome X
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.32716112T>C
Published as -
GERP 5.630
Segregation -
DB-ID DMD_000006
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
DMD NM_004006.2 +/+ c.835A>G p.(Thr279Ala) missense_variant - 9/79 possibly_damaging(0.764) r.(?) tolerated(0.08)


ClinVar @ MSeqDR

26318
MedGen:C3668940,OMIM:302045
Dilated cardiomyopathy 3B
HGVS variant names NC 000023.10:g.32716112T>C
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:300377.0073
Gene symbol:Gene id. DMD:1756
SO:0001583|missense variant
1
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