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 4 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
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