View genomic variant #0000019346

Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.206988471G>A
Published as -
GERP -
Segregation -
DB-ID NDUFS1_000016
MSCV MSCV_0019346
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

5 entries on 1 page. Showing entries 1 - 5.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
NDUFS1 00000204 NM_001199981.1 0000019346 ./. - - c.*438C>T p.(=) - - - -
NDUFS1 00000202 NM_001199982.1 0000019346 ./. - - c.*438C>T p.(=) - - - -
NDUFS1 00000203 NM_001199983.1 0000019346 ./. - - c.*438C>T p.(=) - - - -
NDUFS1 00000206 NM_001199984.1 0000019346 ./. - - c.*438C>T p.(=) - - - -
NDUFS1 00000205 NM_005006.6 0000019346 ./. - - c.*438C>T p.(=) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000307565; RCV000364628;
Chromosome 2:206988471..206988471
ClinVar Allele ID 284911
Disease database name and identifier MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005|MONDO:MONDO:0100224, MedGen:CN257533, OMIM:252010
ClinVar preferred disease name Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1
HGVS variant names NC 000002.11:g.206988471G>A
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 Illumina Laboratory Services, Illumina:292784
Gene symbol:Gene id. NDUFS1:4719
Molecular consequence SO:0001624|3 prime UTR variant
Allele origin germline
dbSNP ID 561980718
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