Variant #0001017840 (NC_000005.9:g.161524745del, NM_198904.2:c.429del (GABRG2))

Individual ID 00458108
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.161524745del
DNA change (hg38) g.162097739del
Published as -
ISCN -
DB-ID GABRG2_000086
Variant remarks -
Reference -
ClinVar ID ClinVar-3383966
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marketa Wayhelova
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Marketa Wayhelova
Date created 2024-12-02 11:54:46 +01:00 (CET)
Date last edited 2024-12-27 10:56:45 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GABRG2 NM_198904.2 +/. 4 c.429del r.(?) p.(Ile145Serfs*26)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000459726 DNA SEQ-NG-I peripheral blood CES - 1 Marketa Wayhelova


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