View genomic variant #0000001011

Chromosome 5
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.240563C>T
Published as -
GERP 4.950
Segregation -
DB-ID SDHA_000003
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


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
SDHA NM_004168.2 +/+ - 11/15 c.1523C>T p.(Thr508Ile) benign(0.33) missense_variant - deleterious(0.01)
SDHA XM_005248329.1 +/+ - 11/15 c.1523C>T p.(Thr508Ile) benign(0.33) missense_variant - deleterious(0.01)
SDHA XM_005248330.1 +/+ - 10/14 c.1379C>T p.(Thr460Ile) benign(0.046) missense_variant - deleterious(0.02)
SDHA XM_005248331.1 +/+ - 11/15 c.1523C>T p.(Thr508Ile) benign(0.33) missense_variant - deleterious(0.01)
SDHA XR_241710.1 +/+ - - n.1460C>T - - - - -


ClinVar @ MSeqDR

0.0027
0.00076
0.0014
48184
MedGen:C0027672,SNOMED CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165
Hereditary cancer-predisposing syndrome|Mitochondrial complex II deficiency|Paragangliomas 5
HGVS variant names NC 000005.9:g.240563C>T
criteria provided, conflicting interpretations
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:600857.0006
Gene symbol:Gene id. SDHA:6389
SO:0001583|missense variant
1
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