Variant #0001001258 (NC_000015.9:g.26793040T>C, NM_000814.5:c.1322A>G (GABRB3))

Chromosome 15
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.26793040T>C
DNA change (hg38) -
Published as GABRB3(NM_000814.5):c.1322A>G (p.(Asp441Gly))
ISCN -
DB-ID GABRB3_000045
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2024-08-28 13:16:32 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GABRB3 NM_000814.5 ?/. - c.1322A>G r.(?) p.(Asp441Gly)


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