View genomic variant #0000017213
Chromosome |
13 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Probably affects function |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.41373319G>A |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
SLC25A15_000076 |
MSCV |
MSCV_0017213 |
dbSNP ID |
- |
Frequency |
- |
Sources |
; clinvar; |
Reference |
- |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
0.00408 View details |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000401214; RCV000726011; RCV001251645; | Chromosome | 13:41373319..41373319 | Allele frequencies from ESP | 0.00408 | Allele frequencies from ExAC | 0.00231 | Allele frequencies from TGP | 0.00080 | ClinVar Allele ID | 200257 | Disease database name and identifier | MedGen:C3661900|Human Phenotype Ontology:HP:0000730, Human Phenotype Ontology:HP:0001249, Human Phenotype Ontology:HP:0001267, Human Phenotype Ontology:HP:0001286, Human Phenotype Ontology:HP:0002122, Human Phenotype Ontology:HP:0002192, Human Phenotype Ontology:HP:0002316, Human Phenotype Ontology:HP:0002382, Human Phenotype Ontology:HP:0002386, Human Phenotype Ontology:HP:0002402, Human Phenotype Ontology:HP:0002458, Human Phenotype Ontology:HP:0002482, Human Phenotype Ontology:HP:0002499, Human Phenotype Ontology:HP:0002543, Human Phenotype Ontology:HP:0003767, Human Phenotype Ontology:HP:0006833, Human Phenotype Ontology:HP:0007154, Human Phenotype Ontology:HP:0007176, Human Phenotype Ontology:HP:0007180, MONDO:MONDO:0001071, MeSH:D008607, MedGen:C3714756|MONDO:MONDO:0009393, MedGen:C0268540, OMIM:238970, Orphanet:415 | ClinVar preferred disease name | not provided|Intellectual disability|Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | HGVS variant names | NC 000013.10:g.41373319G>A | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(3)|Likely benign(3) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA312980 | Gene symbol:Gene id. | SLC25A15:10166 | Molecular consequence | SO:0001583|missense variant, SO:0001619|non-coding transcript variant | Allele origin | | dbSNP ID | 34615430 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001977840; | Chromosome | 13:41373319..41373319 | ClinVar Allele ID | 1423925 | Disease database name and identifier | MONDO:MONDO:0009393, MedGen:C0268540, OMIM:238970, Orphanet:415 | ClinVar preferred disease name | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | HGVS variant names | NC 000013.10:g.41373319G>C | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | SLC25A15:10166 | Molecular consequence | SO:0001583|missense variant, SO:0001619|non-coding transcript variant | Allele origin | germline | dbSNP ID | 34615430 | 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
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