View genomic variant #0000001797

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.43868893C>T
Published as -
GERP 4.800
Segregation -
DB-ID SZT2_000002
MSCV MSCV_0001797
dbSNP ID rs397515489
Frequency -
Sources ; clinvar;
Reference 23932106
Variant remarks -
Genetic origin -
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     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
SZT2 00003270 NM_015284.3 0000001797 +/+ c.73C>T p.? stop_gained,NMD_transcript_variant - 2/6 - r.? -
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ClinVar @ MSeqDR

RCVaccession RCV000057518;
Chromosome 1:43868893..43868893
ClinVar Allele ID 77881
Disease database name and identifier MedGen:C3809624, OMIM:615476
ClinVar preferred disease name Early infantile epileptic encephalopathy 18
HGVS variant names NC 000001.10:g.43868893C>T
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:615463.0001
Gene symbol:Gene id. SZT2:23334
Molecular consequence SO:0001587|nonsense
Allele origin germline
dbSNP ID 397515489
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