Variant #0000342733 (NC_000023.10:g.151820177C>T, GABRQ(NM_018558.2):c.1090C>T)

Chromosome X
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.151820177C>T
DNA change (hg38) g.152651714C>T
Published as GABRQ(NM_018558.3):c.1090C>T (p.R364*, p.?)
ISCN -
DB-ID GABRQ_000019 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GABRQ NM_018558.2 ?/. - c.1090C>T r.(?) p.(Arg364Ter)