View genomic variant #0000016365 – MSeqDR-LSDB Mitochondrial Disease Locus Specific Database

View genomic variant #0000016365

Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type
DNA change (genomic) (Relative to hg19 / GRCh37) g.135183405C>G
Published as
GERP
Segregation
DB-ID ECHS1_000009
MSCV MSCV_0016365
dbSNP ID
Frequency
Sources ; clinvar;
Reference
Variant remarks
Genetic origin
Variant_disease
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD

Variant on transcripts








1 entry on 1 page. Showing entry 1.

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ClinVar @ MSeqDR

RCVaccession RCV000167580;
Chromosome 10:135183405..135183405
ClinVar Allele ID 185752
Disease database name and identifier MONDO:MONDO:0014563, MedGen:C4225391, OMIM:616277
ClinVar preferred disease name Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
HGVS variant names NC 000010.10:g.135183405C>G
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:602292.0002
Gene symbol:Gene id. ECHS1:1892
Molecular consequence SO:0001627|intron variant
Allele origin germline
dbSNP ID 786204002
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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