View genomic variant #0000022188

Chromosome 6
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.158579375G>T
Published as -
GERP -
Segregation -
DB-ID SERAC1_000008
MSCV MSCV_0022188
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.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
SERAC1 00000295 NM_032861.3 0000022188 ./. - - c.21C>A p.(Cys7*) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000200793; RCV000987811;
Chromosome 6:158579375..158579375
Allele frequencies from ESP 0.00031
ClinVar Allele ID 211217
Disease database name and identifier MONDO:MONDO:0013875, MedGen:C3553597, OMIM:614739, Orphanet:ORPHA352328|MedGen:CN517202
ClinVar preferred disease name 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome|not provided
HGVS variant names NC 000006.11:g.158579375G>C
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Likely pathogenic(1), Uncertain significance(1)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. SERAC1:84947
Molecular consequence SO:0001583|missense variant, SO:0001619|non-coding transcript variant
Allele origin germline
dbSNP ID 139301835
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000616269;
Chromosome 6:158579375..158579375
ClinVar Allele ID 496850
Disease database name and identifier MONDO:MONDO:0016387, MedGen:CN924906, Orphanet:ORPHA223713
ClinVar preferred disease name Mitochondrial oxidative phosphorylation disorder
HGVS variant names NC 000006.11:g.158579375G>T
ClinVar review status criteria provided, single submitter
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. SERAC1:84947
Molecular consequence SO:0001587|nonsense, SO:0001619|non-coding transcript variant
Allele origin germline
dbSNP ID 139301835
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