Variant #0000079398 (NC_000002.11:g.165578421_167108554del, NM_001165963.1:c.-178423_*1269334del (SCN1A))

Individual ID 00050473
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.165578421_167108554del
DNA change (hg38) -
Published as -
ISCN -
DB-ID COBLL1_000002
Variant remarks decreased gene dosage
Reference PubMed: DDDS 2015, Journal: DDDS 2015
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-09-27 16:16:40 +02:00 (CEST)
Date last edited 2022-12-23 09:42:17 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
SCN1A NM_001165963.1 ./. - c.-178423_*1269334del r.0? p.0? -
SCN9A NM_002977.3 ./. - c.3319-159_*1476761del r.(?) p.(Arg1107*) -
GALNT3 NM_004482.3 ./. - c.-458138_*1026870del r.0? p.0? -
SCN1A NM_006920.4 ./. - c.-178423_*1269334del r.0? p.0? -
SCN3A NM_006922.3 ./. - c.-1048469_*368239del r.0? p.0? -
SCN2A NM_021007.2 ./. - c.-572276_*862220del r.0? p.0? -
TTC21B NM_024753.4 ./. - c.-298339_*1152844del r.0? p.0? -
CSRNP3 NM_024969.3 ./. - c.-850700_*572291del r.0? p.0? -
SLC38A11 NM_173512.2 ./. - c.-1296850_*176526del r.0? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050418 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen


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