View genomic variant #0000005222

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.240566C>T
Published as -
GERP 4.950
Segregation -
DB-ID SDHA_000004 See all 3 reported entries
MSCV MSCV_0005222
dbSNP ID rs397514541
Frequency -
Sources ; ensembl;
Reference 22972948
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 0000005222 ./. - 11/15 c.1526C>T p.(Ser509Leu) benign(0.144) missense_variant - deleterious(0.01)
SDHA 00001116 XM_005248329.1 0000005222 ./. - 11/15 c.1526C>T p.(Ser509Leu) benign(0.144) missense_variant - deleterious(0.01)
SDHA 00001119 XM_005248330.1 0000005222 ./. - 10/14 c.1382C>T p.(Ser461Leu) benign(0.046) missense_variant - deleterious(0.01)
SDHA 00001115 XM_005248331.1 0000005222 ./. - 11/15 c.1526C>T p.(Ser509Leu) benign(0.144) missense_variant - deleterious(0.01)
SDHA 00001117 XR_241710.1 0000005222 ./. - - n.1463C>T - - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000032786;
Chromosome 5:240566..240566
ClinVar Allele ID 48185
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.240566C>T
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:600857.0007
Gene symbol:Gene id. SDHA:6389
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 397514541
Variant Suspect Reason 1
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000575106; RCV000483714;
Chromosome 5:240566..240567
ClinVar Allele ID 406740
Disease database name and identifier MedGen:C0027672, SNOMED CT:699346009|MedGen:CN517202
ClinVar preferred disease name Hereditary cancer-predisposing syndrome|not provided
HGVS variant names NC 000005.9:g.240566 240567delCGinsGA
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic
Variant type Indel
Sequence Ontology for variant type SO:1000032
Gene symbol:Gene id. SDHA:6389
Molecular consequence SO:0001587|nonsense
Allele origin germline
dbSNP ID 1064793567
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None