Variant #0000400901 (NC_000023.10:g.129148812C>T, BCORL1(NM_021946.4):c.2064C>T)

Individual ID 00173244
Chromosome X
Allele Parent #1
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.129148812C>T
DNA change (hg38) g.130014836C>T
Published as V688V
ISCN -
DB-ID BCORL1_000011
Variant remarks found once, nonrecurrent change
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/208 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00247 View details
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2009-04-08 13:58:13 +02:00 (CEST)
Date last edited 2009-05-19 12:33:15 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BCORL1 NM_021946.4 -?/. - c.2064C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174127 DNA SEQ - - CHRDL1 1 Lucy Raymond