View genomic variant #0000022187

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.158579299A>G
Published as -
GERP -
Segregation -
DB-ID SERAC1_000007
MSCV MSCV_0022187
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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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 0000022187 ./. - - c.91+6T>C p.(=) - - - -
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ClinVar @ MSeqDR

RCVaccession RCV000578380;
Chromosome 6:158579299..158579299
ClinVar Allele ID 481460
Disease database name and identifier MONDO:MONDO:0013875, MedGen:C3553597, OMIM:614739, Orphanet:ORPHA352328
ClinVar preferred disease name 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
HGVS variant names NC 000006.11:g.158579299A>G
ClinVar review status criteria provided, single submitter
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:614725.0007
Gene symbol:Gene id. SERAC1:84947
Molecular consequence SO:0001627|intron variant
Allele origin
dbSNP ID 1554265452
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