View genomic variant #0000005222

Chromosome 5
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) 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 2 reported entries
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


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
SDHA NM_004168.2 ./. - 11/15 c.1526C>T p.(Ser509Leu) benign(0.144) missense_variant - deleterious(0.01)
SDHA XM_005248329.1 ./. - 11/15 c.1526C>T p.(Ser509Leu) benign(0.144) missense_variant - deleterious(0.01)
SDHA XM_005248330.1 ./. - 10/14 c.1382C>T p.(Ser461Leu) benign(0.046) missense_variant - deleterious(0.01)
SDHA XM_005248331.1 ./. - 11/15 c.1526C>T p.(Ser509Leu) benign(0.144) missense_variant - deleterious(0.01)
SDHA XR_241710.1 ./. - - n.1463C>T - - - - -


ClinVar @ MSeqDR

48185
MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208
Mitochondrial complex II deficiency
HGVS variant names NC 000005.9:g.240566C>T
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:600857.0007
Gene symbol:Gene id. SDHA:6389
SO:0001583|missense variant
1
dbSNP ID 397514541
Variant Suspect Reason 1
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

406740
MedGen:C0027672,SNOMED CT:699346009|MedGen:CN517202
Hereditary cancer-predisposing syndrome|not provided
HGVS variant names NC 000005.9:g.240566 240567delCGinsGA
criteria provided, single submitter
Clinical Significance
Indel
SO:1000032
Gene symbol:Gene id. SDHA:6389
SO:0001587|nonsense
1
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