Variant #0000393365 (NC_000023.10:g.50659280C>T, BMP15(NM_005448.2):c.852C>T)

Individual ID 00172625
Chromosome X
Allele Parent #1
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.50659280C>T
DNA change (hg38) g.50916280C>T
Published as S284S
ISCN -
DB-ID BMP15_000016
Variant remarks recurrent, found 2 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 2/208 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0566 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 2009-05-08 12:40:34 +02:00 (CEST)
Date last edited 2018-07-27 13:09:41 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BMP15 NM_005448.2 ?/. - c.852C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173508 DNA SEQ - - MAGEC1 1 Lucy Raymond