View genomic variant #0000022178

Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.158535875_158535876insAG
Published as -
GERP -
Segregation -
DB-ID SERAC1_000009
MSCV MSCV_0022178
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 8.0E-5 View details
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 0000022178 ./. - - c.1629_1630insCT p.(Val544Leufs*43) - - - -
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ClinVar @ MSeqDR

RCVaccession RCV000029222; RCV000195622;
Chromosome 6:158535875..158535876
ClinVar Allele ID 211206
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.158535876 158535877AG[3]
ClinVar review status criteria provided, single submitter
Clinical Significance Pathogenic
Variant type Microsatellite
Sequence Ontology for variant type SO:0000289
Variant clinical sources reported OMIM Allelic Variant:614725.0005
Gene symbol:Gene id. SERAC1:84947
Molecular consequence SO:0001589|frameshift variant, SO:0001619|non-coding transcript variant
Allele origin germline
dbSNP ID 767780913
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