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 |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
Variant not found in online data sets |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000998347; RCV001053500; RCV002391064; | Chromosome | 5:240566..240566 | ClinVar Allele ID | 795689 | Disease database name and identifier | MONDO:MONDO:0100294, MedGen:C5700310, OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602, MedGen:C3279992, OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | ClinVar preferred disease name | Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 5|Hereditary cancer-predisposing syndrome|not provided | HGVS variant names | NC 000005.9:g.240566C>G | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Likely pathogenic(1)|Uncertain significance(2) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | SDHA:6389 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 397514541 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000032786; RCV000695865; | Chromosome | 5:240566..240566 | ClinVar Allele ID | 48185 | Disease database name and identifier | MONDO:MONDO:0013602, MedGen:C3279992, OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294, MedGen:C5700310, OMIM:252011, Orphanet:3208 | ClinVar preferred disease name | Paragangliomas 5|Mitochondrial complex II deficiency, nuclear type 1 | HGVS variant names | NC 000005.9:g.240566C>T | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA130383|OMIM:600857.0007 | Gene symbol:Gene id. | SDHA:6389 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 397514541 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000483714; RCV000575106; RCV000800769; RCV003401517; RCV003476157; | Chromosome | 5:240566..240567 | ClinVar Allele ID | 406740 | Disease database name and identifier | MONDO:MONDO:0013339, MedGen:C3150898, OMIM:613642, Orphanet:154|.|MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0100294, MedGen:C5700310, OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602, MedGen:C3279992, OMIM:614165, Orphanet:29072 | ClinVar preferred disease name | Dilated cardiomyopathy 1GG|SDHA-related condition|Hereditary cancer-predisposing syndrome|not provided|Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 5 | HGVS variant names | NC 000005.9:g.240566 240567delinsGA | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | Indel | Sequence Ontology for variant type | SO:1000032 | Variant clinical sources reported | ClinGen:CA16618198 | 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
|