Genomic variant #0000001009

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>C
Published as -
GERP 2.450
Segregation -
DB-ID SDHA_000001
dbSNP ID rs1061517
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 +/+ - 1/14 c.1A>C p.? benign(0.067) initiator_codon_variant - tolerated(0.14)
SDHA XM_005248329.1 +/+ - 1/14 c.1A>C p.? benign(0.067) initiator_codon_variant - tolerated(0.14)
SDHA XM_005248330.1 +/+ - 1/14 c.1A>C p.? benign(0.067) initiator_codon_variant - tolerated(0.14)
SDHA XM_005248331.1 +/+ - 1/14 c.1A>C p.? benign(0.067) initiator_codon_variant - tolerated(0.14)
SDHA XR_241710.1 +/+ - - n.134A>C - - - - -


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:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN517202
Hereditary cancer-predisposing syndrome|Mitochondrial complex II deficiency|Paragangliomas 5|not provided
HGVS variant names NC 000005.9:g.218471A>G
criteria provided, multiple submitters, no conflicts
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