Variant #0000335927 (NC_000023.10:g.151806702A>T, GABRQ(NM_018558.2):c.46A>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.151806702A>T
DNA change (hg38) g.152638248A>T
Published as GABRQ(NM_018558.3):c.46A>T (p.(Ile16Phe))
ISCN -
DB-ID GABRQ_000017
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) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GABRQ NM_018558.2 ?/. - c.46A>T r.(?) p.(Ile16Phe)