View genomic variant #0000001015

Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.251453G>A
Published as -
GERP 3.620
Segregation -
DB-ID SDHA_000007 See all 2 reported entries
MSCV MSCV_0001015
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

5 entries on 1 page. Showing entries 1 - 5.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
SDHA 00001118 NM_004168.2 0000001015 +/+ - 13/15 c.1664G>A p.(Gly555Glu) probably_damaging(0.996) missense_variant,splice_region_variant - deleterious(0)
SDHA 00001116 XM_005248329.1 0000001015 +/+ - 13/15 c.1664G>A p.(Gly555Glu) probably_damaging(0.996) missense_variant,splice_region_variant - deleterious(0)
SDHA 00001119 XM_005248330.1 0000001015 +/+ - 12/14 c.1520G>A p.(Gly507Glu) possibly_damaging(0.904) missense_variant,splice_region_variant - deleterious(0)
SDHA 00001115 XM_005248331.1 0000001015 +/+ - - c.1552-3055G>A p.(=) - - - -
SDHA 00001117 XR_241710.1 0000001015 +/+ - - n.*249G>A - - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000009286; RCV000009284;
Chromosome 5:251453..251453
Allele frequencies from ExAC 0.00001
ClinVar Allele ID 23784
Disease database name and identifier MedGen:C1855008, OMIM:252011, Orphanet:ORPHA3208|MedGen:C3150898, OMIM:613642
ClinVar preferred disease name Mitochondrial complex II deficiency|Dilated cardiomyopathy 1GG
HGVS variant names NC 000005.9:g.251453G>A
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:600857.0004|UniProtKB (protein):P31040#VAR 016879
Gene symbol:Gene id. SDHA:6389
Molecular consequence 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