View genomic variant #0000001013

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.251126C>T
Published as -
GERP 3.690
Segregation -
DB-ID SDHA_000005 See all 2 reported entries
MSCV MSCV_0001013
dbSNP ID rs137852767
Frequency -
Sources ; clinVar; Ensembl;
Reference 10746566
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 0000001013 +/+ - 12/15 c.1571C>T p.(Ala524Val) probably_damaging(0.911) missense_variant - deleterious(0)
SDHA 00001116 XM_005248329.1 0000001013 +/+ - 12/15 c.1571C>T p.(Ala524Val) probably_damaging(0.911) missense_variant - deleterious(0)
SDHA 00001119 XM_005248330.1 0000001013 +/+ - 11/14 c.1427C>T p.(Ala476Val) probably_damaging(0.968) missense_variant - deleterious(0)
SDHA 00001115 XM_005248331.1 0000001013 +/+ - - c.1552-3382C>T p.(=) - - - -
SDHA 00001117 XR_241710.1 0000001013 +/+ - - n.1508C>T - - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000009282; RCV000649458; RCV000649458; RCV000520939;
Chromosome 5:251126..251126
ClinVar Allele ID 23782
Disease database name and identifier MedGen:C1855008, OMIM:252011, Orphanet:ORPHA3208|MedGen:C3279992, OMIM:614165|MedGen:CN517202
ClinVar preferred disease name Mitochondrial complex II deficiency|Paragangliomas 5|not provided
HGVS variant names NC 000005.9:g.251126C>T
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Pathogenic(2), Uncertain significance(1)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:600857.0002|UniProtKB (protein):P31040#VAR 016878
Gene symbol:Gene id. SDHA:6389
Molecular consequence SO:0001583|missense variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 137852767
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
rs1378527675251126251126C/TOMIM phenotype variantsLEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY
CM0004245251126251126HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available