View genomic variant #0000001014

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.251215C>T
Published as -
GERP -0.716
Segregation -
DB-ID SDHA_000006 See all 2 reported entries
MSCV MSCV_0001014
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

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 0000001014 +/+ - 12/15 c.1660C>T p.(Arg554Trp) probably_damaging(0.972) missense_variant - deleterious(0)
SDHA 00001116 XM_005248329.1 0000001014 +/+ - 12/15 c.1660C>T p.(Arg554Trp) probably_damaging(0.972) missense_variant - deleterious(0)
SDHA 00001119 XM_005248330.1 0000001014 +/+ - 11/14 c.1516C>T p.(Arg506Trp) probably_damaging(0.954) missense_variant - deleterious(0)
SDHA 00001115 XM_005248331.1 0000001014 +/+ - - c.1552-3293C>T p.(=) - - - -
SDHA 00001117 XR_241710.1 0000001014 +/+ - - n.*11C>T - - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000573113; RCV000009281; RCV000456631; RCV000456631;
Chromosome 5:251215..251215
Allele frequencies from ExAC 0.00003
ClinVar Allele ID 23781
Disease database name and identifier MedGen:C0027672, SNOMED CT:699346009|MedGen:C1855008, OMIM:252011, Orphanet:ORPHA3208|MedGen:C3279992, OMIM:614165
ClinVar preferred disease name Hereditary cancer-predisposing syndrome|Mitochondrial complex II deficiency|Paragangliomas 5
HGVS variant names NC 000005.9:g.251215C>T
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Likely pathogenic(1), Pathogenic(1), Uncertain significance(1)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:600857.0001|UniProtKB (protein):P31040#VAR 002449
Gene symbol:Gene id. SDHA:6389
Molecular consequence SO:0001583|missense variant, SO:0001627|intron variant
Allele origin germline
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