View genomic variant #0000001010

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.218471A>G
Published as -
GERP 2.450
Segregation -
DB-ID SDHA_000002 See all 2 reported entries
MSCV MSCV_0001010
dbSNP ID rs1061517
Frequency -
Sources ;
Reference 10746566
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 9.0E-5 View details
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 0000001010 ./. - 1/14 c.1A>G p.? benign(0.067) initiator_codon_variant - deleterious(0.02)
SDHA 00001116 XM_005248329.1 0000001010 ./. - 1/14 c.1A>G p.? benign(0.067) initiator_codon_variant - deleterious(0.02)
SDHA 00001119 XM_005248330.1 0000001010 ./. - 1/14 c.1A>G p.? benign(0.067) initiator_codon_variant - deleterious(0.02)
SDHA 00001115 XM_005248331.1 0000001010 ./. - 1/14 c.1A>G p.? benign(0.067) initiator_codon_variant - deleterious(0.02)
SDHA 00001117 XR_241710.1 0000001010 ./. - - n.134A>G - - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000009283;
Chromosome 5:218471..218471
ClinVar Allele ID 23783
Disease database name and identifier MedGen:C1855008, OMIM:252011, Orphanet:ORPHA3208
ClinVar preferred disease name Mitochondrial complex II deficiency
HGVS variant names NC 000005.9:g.218471A>C
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:600857.0003
Gene symbol:Gene id. SDHA:6389
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 1061517
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000567727; RCV000230468; RCV000230468; RCV000579224;
Chromosome 5:218471..218471
Allele frequencies from ESP 0.0001
Allele frequencies from ExAC 0.00002
ClinVar Allele ID 239796
Disease database name and identifier MedGen:C0027672, SNOMED CT:699346009|MedGen:C1855008, OMIM:252011, Orphanet:ORPHA3208|MedGen:C3279992, OMIM:614165|MedGen:CN517202
ClinVar preferred disease name Hereditary cancer-predisposing syndrome|Mitochondrial complex II deficiency|Paragangliomas 5|not provided
HGVS variant names NC 000005.9:g.218471A>G
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic/Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. SDHA:6389
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 1061517
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000410820;
Chromosome 5:218471..218471
ClinVar Allele ID 358789
Disease database name and identifier MedGen:C3279992, OMIM:614165
ClinVar preferred disease name Paragangliomas 5
HGVS variant names NC 000005.9:g.218471A>T
ClinVar review status criteria provided, single submitter
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. SDHA:6389
Molecular consequence SO:0001583|missense variant
Allele origin unknown
dbSNP ID 1061517
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
rs10615175218471218471A/G/COMIM phenotype variantsLEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY
CM0004235218471218471HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available