Screening #0000153552

Individual ID 00036893
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 2
Owner name Andreas Laner


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
SCN1B sodium channel, voltage-gated, type I, beta subunit 19 - 2 177 57 2019-02-24 ATFB-13, BRGDA, BRGDA-5, GEFSP-1



Variants found

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Effect     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
19 Paternal (confirmed) g.35523468C>T - - - SCN1B_000055 Confirmed paternal inheritance, father and fathers sister also affected (GEFS+, febrile seizures). - - - Germline yes - - 0 - Andreas Laner SCN1B +?/. - - - - - - NM_001037.4:c.77C>T, NM_199037.3:c.77C>T - - r.(?) p.(Ser26Leu) - - - - - - - - - - - - - - - - - - - - - - -
19 Maternal (confirmed) g.35523557G>A - - - SCN1B_000006 This variant was inherited from the unaffected mother, the variant c.77C>T (p.Ser26Leu) was inherited from the affected father (fathers sister also affected) - - - Germline no - - 0 - Andreas Laner SCN1B -?/. - - - - - - NM_001037.4:c.166G>A, NM_199037.3:c.166G>A - - r.(?) p.(Glu56Lys) - - - - - - - - - - - - - - - - - - - - - - -
Legend