View genomic variant #0000001010

Chromosome 5
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.218471A>G
Published as -
GERP 2.450
Segregation -
DB-ID SDHA_000002
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


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
SDHA NM_004168.2 ./. - 1/14 c.1A>G p.? benign(0.067) initiator_codon_variant - deleterious(0.02)
SDHA XM_005248329.1 ./. - 1/14 c.1A>G p.? benign(0.067) initiator_codon_variant - deleterious(0.02)
SDHA XM_005248330.1 ./. - 1/14 c.1A>G p.? benign(0.067) initiator_codon_variant - deleterious(0.02)
SDHA XM_005248331.1 ./. - 1/14 c.1A>G p.? benign(0.067) initiator_codon_variant - deleterious(0.02)
SDHA XR_241710.1 ./. - - n.134A>G - - - - -


ClinVar @ MSeqDR

23783
MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208
Mitochondrial complex II deficiency
HGVS variant names NC 000005.9:g.218471A>C
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:600857.0003
Gene symbol:Gene id. SDHA:6389
SO:0001583|missense variant
1
dbSNP ID 1061517
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

0.0001
0.00002
239796
MedGen:C0027672,SNOMED CT:699346009|MedGen:C3279992,OMIM:614165
Hereditary cancer-predisposing syndrome|Paragangliomas 5
HGVS variant names NC 000005.9:g.218471A>G
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. SDHA:6389
SO:0001583|missense variant
1
dbSNP ID 1061517
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

358789
MedGen:C3279992,OMIM:614165
Paragangliomas 5
HGVS variant names NC 000005.9:g.218471A>T
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. SDHA:6389
SO:0001583|missense variant
0
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