Variant #0000994848 (NC_000005.9:g.160753375C>T, NC_000005.9(NM_000813.2):c.1077+4515G>A (GABRB2))

Chromosome 5
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.160753375C>T
DNA change (hg38) -
Published as GABRB2(NM_021911.2):c.1191G>A (p.T397=, p.(Thr397Thr))
ISCN -
DB-ID GABRB2_000010 See all 2 reported entries
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) 2.0E-5 View details
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GABRB2 NM_000813.2 ?/. - c.1077+4515G>A r.(=) p.(=)


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