Genomic variant #0000001013

Chromosome 5
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.251126C>T
Published as -
GERP 3.690
Segregation -
DB-ID SDHA_000005
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


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
SDHA NM_004168.2 +/+ - 12/15 c.1571C>T p.(Ala524Val) probably_damaging(0.911) missense_variant - deleterious(0)
SDHA XM_005248329.1 +/+ - 12/15 c.1571C>T p.(Ala524Val) probably_damaging(0.911) missense_variant - deleterious(0)
SDHA XM_005248330.1 +/+ - 11/14 c.1427C>T p.(Ala476Val) probably_damaging(0.968) missense_variant - deleterious(0)
SDHA XM_005248331.1 +/+ - - c.1552-3382C>T p.(=) - - - -
SDHA XR_241710.1 +/+ - - n.1508C>T - - - - -


ClinVar @ MSeqDR

23782
MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN517202
Mitochondrial complex II deficiency|Paragangliomas 5|not provided
HGVS variant names NC 000005.9:g.251126C>T
criteria provided, conflicting interpretations
Clinical Significance
Pathogenic(2),Uncertain significance(1)
single nucleotide variant
SO:0001483
OMIM Allelic Variant:600857.0002|UniProtKB (protein):P31040#VAR 016878
Gene symbol:Gene id. SDHA:6389
SO:0001583|missense variant,SO:0001627|intron variant
1
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