Genomic variant #0000352706

Individual ID 00036893
Chromosome 19
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.35523468C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID SCN1B_000055
Variant remarks Confirmed paternal inheritance, father and fathers sister also affected (GEFS+, febrile seizures).
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Andreas Laner




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SCN1B NM_001037.4 +?/. - c.77C>T - r.(?) p.(Ser26Leu)
SCN1B NM_199037.3 +?/. - c.77C>T - r.(?) p.(Ser26Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153552 DNA SEQ - - SCN1B 2 Andreas Laner