Variant #0000618991 (NC_000023.10:g.129147531G>A, BCORL1(NM_021946.4):c.783G>A)

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.129147531G>A
DNA change (hg38) g.130013555G>A
Published as BCORL1(NM_001184772.2):c.783G>A (p.A261=, p.(Ala261=))
ISCN -
DB-ID BCORL1_000052 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) 0.00435 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 2019-12-04 15:24:38 +01:00 (CET)
Date last edited 2023-04-16 21:50:28 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BCORL1 NM_021946.4 -?/. - c.783G>A r.(?) p.(Ala261=)