View genomic variant #0000001011

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.240563C>T
Published as -
GERP 4.950
Segregation -
DB-ID SDHA_000003 See all 2 reported entries
MSCV MSCV_0001011
dbSNP ID rs151266052
Frequency -
Sources ; clinVar; ensembl;
Reference 22972948
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.00269 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 0000001011 +/+ - 11/15 c.1523C>T p.(Thr508Ile) benign(0.33) missense_variant - deleterious(0.01)
SDHA 00001116 XM_005248329.1 0000001011 +/+ - 11/15 c.1523C>T p.(Thr508Ile) benign(0.33) missense_variant - deleterious(0.01)
SDHA 00001119 XM_005248330.1 0000001011 +/+ - 10/14 c.1379C>T p.(Thr460Ile) benign(0.046) missense_variant - deleterious(0.02)
SDHA 00001115 XM_005248331.1 0000001011 +/+ - 11/15 c.1523C>T p.(Thr508Ile) benign(0.33) missense_variant - deleterious(0.01)
SDHA 00001117 XR_241710.1 0000001011 +/+ - - n.1460C>T - - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000563852; RCV000032785; RCV000232220; RCV000232220; RCV000602065;
Chromosome 5:240563..240563
Allele frequencies from ESP 0.0027
Allele frequencies from ExAC 0.00076
Allele frequencies from TGP 0.0014
ClinVar Allele ID 48184
Disease database name and identifier MedGen:C0027672, SNOMED CT:699346009|MedGen:C1855008, OMIM:252011, Orphanet:ORPHA3208|MedGen:C3279992, OMIM:614165|MedGen:CN169374
ClinVar preferred disease name Hereditary cancer-predisposing syndrome|Mitochondrial complex II deficiency|Paragangliomas 5|not specified
HGVS variant names NC 000005.9:g.240563C>T
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Likely benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:600857.0006
Gene symbol:Gene id. SDHA:6389
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 151266052
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