Genomic variant #0000003644

Chromosome X
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.32717369A>T
Published as -
GERP 5.570
Segregation -
DB-ID DMD_000001
dbSNP ID rs128626237
Frequency -
Sources ; clinvar;
Reference 7951253
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.691T>A p.(Tyr231Asn) missense_variant - 8/79 probably_damaging(0.998) r.(?) deleterious(0)


ClinVar @ MSeqDR

26280
MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009
Becker muscular dystrophy
HGVS variant names NC 000023.10:g.32717369A>T
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:300377.0035
Gene symbol:Gene id. DMD:1756
SO:0001583|missense variant
1
dbSNP ID 128626237
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
rs128626237X3271736932717369A/TOMIM phenotype variantsBECKER MUSCULAR DYSTROPHY
CM940339X3271736932717369HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available
CM098342X3271736932717369HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available