Variant #0000624458 (NC_000023.10:g.14748569T>C, GLRA2(NM_001118885.1):c.1321T>C)

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.14748569T>C
DNA change (hg38) g.14730447T>C
Published as GLRA2(NM_002063.3):c.1321T>C (p.Y441H)
ISCN -
DB-ID GLRA2_000028
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) Variant not found in online data sets
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GLRA2 NM_001118885.1 ?/. - c.1321T>C r.(?) p.(Tyr441His)