View genomic variant #0000021311

Chromosome 5
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.52942197A>G
Published as -
GERP -
Segregation -
DB-ID NDUFS4_000012
MSCV MSCV_0021311
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.79248 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 0000021311 ./. - - c.312A>G p.(=) - - - -
NDUFS4 00000212 XM_005248525.1 0000021311 ./. - - c.312A>G p.(=) - - - -
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ClinVar @ MSeqDR

RCVaccession RCV000117715; RCV000302455; RCV000398452; RCV000676475;
Chromosome 5:52942197..52942197
Allele frequencies from ESP 0.79248
Allele frequencies from ExAC 0.77345
Allele frequencies from TGP 0.80012
ClinVar Allele ID 135147
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.52942197A>G
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported Illumina Clinical Services Laboratory, Illumina:36811
Gene symbol:Gene id. NDUFS4:4724
Molecular consequence SO:0001619|non-coding transcript variant, SO:0001819|synonymous variant
Allele origin germline
dbSNP ID 31303
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