Variant #0000867030 (NC_000023.10:g.129148226T>C, BCORL1(NM_021946.4):c.1478T>C)

Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.129148226T>C
DNA change (hg38) -
Published as BCORL1(NM_021946.4):c.1478T>C (p.(Val493Ala))
ISCN -
DB-ID BCORL1_000078
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) 1.0E-5 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 2022-05-09 16:01:56 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BCORL1 NM_021946.4 +?/. - c.1478T>C r.(?) p.(Val493Ala)