Variant #0000011394 (NC_000001.10:g.39992537G>A, BMP8A(NM_181809.3):c.*1067G>A)

Individual ID 00000209
Chromosome 1
Allele Both (homozygous)
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.39992537G>A
DNA change (hg38) g.39526865G>A
Published as -
ISCN -
DB-ID BMP8A_000001
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Yu Sun
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Ivo F.A.C. Fokkema
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BMP8A NM_181809.3 ?/. - c.*1067G>A r.(=) p.(=)
PPIEL NR_003929.2 ?/. - n.2411+2190C>T r.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000210 DNA SEQ-NG-I - - - 6404 Yu Sun