Genomic variant #0000352705

Individual ID 00036893
Chromosome 19
Allele Maternal (confirmed)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.35523557G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID SCN1B_000006 See all 2 reported entries
Variant remarks 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)
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
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.166G>A - r.(?) p.(Glu56Lys)
SCN1B NM_199037.3 -?/. - c.166G>A - r.(?) p.(Glu56Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153552 DNA SEQ - - SCN1B 2 Andreas Laner