View genomic variant #0000001797

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.43868893C>T
Published as -
GERP 4.800
Segregation -
DB-ID SZT2_000002
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

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


ClinVar @ MSeqDR

77881
MedGen:C3809624,OMIM:615476
Early infantile epileptic encephalopathy 18
HGVS variant names NC 000001.10:g.43868893C>T
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:615463.0001
Gene symbol:Gene id. SZT2:23334
SO:0001587|nonsense
1
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