Genomic variant #0000001014

Chromosome 5
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.251215C>T
Published as -
GERP -0.716
Segregation -
DB-ID SDHA_000006
dbSNP ID rs9809219
Frequency -
Sources ; clinVar; Ensembl;
Reference 7550341
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.1660C>T p.(Arg554Trp) probably_damaging(0.972) missense_variant - deleterious(0)
SDHA XM_005248329.1 +/+ - 12/15 c.1660C>T p.(Arg554Trp) probably_damaging(0.972) missense_variant - deleterious(0)
SDHA XM_005248330.1 +/+ - 11/14 c.1516C>T p.(Arg506Trp) probably_damaging(0.954) missense_variant - deleterious(0)
SDHA XM_005248331.1 +/+ - - c.1552-3293C>T p.(=) - - - -
SDHA XR_241710.1 +/+ - - n.*11C>T - - - - -


ClinVar @ MSeqDR

0.00003
23781
MedGen:C0027672,SNOMED CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165
Hereditary cancer-predisposing syndrome|Mitochondrial complex II deficiency|Paragangliomas 5
HGVS variant names NC 000005.9:g.251215C>T
criteria provided, conflicting interpretations
Clinical Significance
Likely pathogenic(1),Pathogenic(1),Uncertain significance(1)
single nucleotide variant
SO:0001483
OMIM Allelic Variant:600857.0001|UniProtKB (protein):P31040#VAR 002449
Gene symbol:Gene id. SDHA:6389
SO:0001583|missense variant,SO:0001627|intron variant
1
dbSNP ID 9809219
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
rs98092195251215251215C/TOMIM phenotype variantsLEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY
CM9511465251215251215HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available