View genomic variant #0000021306

Chromosome 5
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.52899285G>A
Published as -
GERP -
Segregation -
DB-ID NDUFS4_000017
MSCV MSCV_0021306
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.00208 View details
Owner LOVD




Variant on transcripts

2 entries on 1 page. Showing entries 1 - 2.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
NDUFS4 00000213 NM_002495.2 0000021306 ./. - - c.102G>A p.(=) - - - -
NDUFS4 00000212 XM_005248525.1 0000021306 ./. - - c.102G>A p.(=) - - - -
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ClinVar @ MSeqDR

RCVaccession RCV000127157; RCV000280441; RCV000386502; RCV000905987;
Chromosome 5:52899285..52899285
Allele frequencies from ESP 0.00208
Allele frequencies from ExAC 0.00062
Allele frequencies from TGP 0.00300
ClinVar Allele ID 142195
Disease database name and identifier MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005|MONDO:MONDO:0100224, MedGen:CN257533, OMIM:252010|MedGen:CN169374|MedGen:CN517202
ClinVar preferred disease name Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|not specified|not provided
HGVS variant names NC 000005.9:g.52899285G>A
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Benign(2), Uncertain significance(2)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported Illumina Clinical Services Laboratory, Illumina:838741
Gene symbol:Gene id. NDUFS4:4724
Molecular consequence SO:0001619|non-coding transcript variant, SO:0001819|synonymous variant
Allele origin germline
dbSNP ID 138941073
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