Variant #0000335930 (NC_000023.10:g.151821277_151821279del, GABRQ(NM_018558.2):c.1432_1434del)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.151821277_151821279del
DNA change (hg38) g.152652814_152652816del
Published as GABRQ(NM_018558.3):c.1430_1432del (p.(Phe478del))
ISCN -
DB-ID GABRQ_000021
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GABRQ NM_018558.2 -?/. - c.1432_1434del r.(?) p.(Phe478del)