Genomic variant #0000001015

Chromosome 5
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.251453G>A
Published as -
GERP 3.620
Segregation -
DB-ID SDHA_000007
dbSNP ID rs137852768
Frequency -
Sources ; clinVar; Ensembl;
Reference 10746566;12794685;7550341;16798039;20551992
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     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
SDHA NM_004168.2 +/+ - 13/15 c.1664G>A p.(Gly555Glu) probably_damaging(0.996) missense_variant,splice_region_variant - deleterious(0)
SDHA XM_005248329.1 +/+ - 13/15 c.1664G>A p.(Gly555Glu) probably_damaging(0.996) missense_variant,splice_region_variant - deleterious(0)
SDHA XM_005248330.1 +/+ - 12/14 c.1520G>A p.(Gly507Glu) possibly_damaging(0.904) missense_variant,splice_region_variant - deleterious(0)
SDHA XM_005248331.1 +/+ - - c.1552-3055G>A p.(=) - - - -
SDHA XR_241710.1 +/+ - - n.*249G>A - - - - -


ClinVar @ MSeqDR

0.00001
23784
MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3150898,OMIM:613642
Mitochondrial complex II deficiency|Dilated cardiomyopathy 1GG
HGVS variant names NC 000005.9:g.251453G>A
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:600857.0004|UniProtKB (protein):P31040#VAR 016879
Gene symbol:Gene id. SDHA:6389
SO:0001583|missense variant,SO:0001627|intron variant
dbSNP ID 137852768
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
rs1378527685251453251453G/AOMIM phenotype variantsMITOCHONDRIAL COMPLEX II DEFICIENCY
rs1378527685251453251453G/AOMIM phenotype variantsLeighs disease
rs1378527685251453251453G/AOMIM phenotype variantsCardiomyopathy, dilated, 1gg
CM0317455251453251453HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available