Variant #0000393364 (NC_000023.10:g.50658966G>A, BMP15(NM_005448.2):c.538G>A)

Individual ID 00172624
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.50658966G>A
DNA change (hg38) g.50915966G>A
Published as -
ISCN -
DB-ID BMP15_000012 See all 3 reported entries
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) 0.01022 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 2021-06-28 17:59:44 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BMP15 NM_005448.2 ?/. - c.538G>A r.(?) p.(Ala180Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173507 DNA SEQ - - MAGEC1 1 Lucy Raymond