Variant #0000170288 (NC_000023.10:g.50653985C>T, BMP15(NM_005448.2):c.202C>T)

Individual ID 00104566
Chromosome X
Allele Maternal (confirmed)
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.50653985C>T
DNA change (hg38) g.50910985C>T
Published as -
ISCN -
DB-ID BMP15_000001 See all 5 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Somatic
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00071 View details
Owner Karine Poirier
Database submission license No license selected
Created by Karine Poirier
Date created 2017-05-15 12:33:41 +02:00 (CEST)
Date last edited 2017-05-15 16:54:10 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BMP15 NM_005448.2 ?/. - c.202C>T r.(?) p.(Arg68Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105038 DNA;RNA RT-PCR;SEQ;SEQ-NG - - BMP15, CSNK2B, GPR144, HEPH, PLXNA3 8 Karine Poirier