Variant #0000454502 (NC_000010.10:g.88635819_88635822del, BMPR1A(NM_004329.2):c.44_47del)

Individual ID 00218563
Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Affects function
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.88635819_88635822del
DNA change (hg38) g.86876062_86876065del
Published as 44-47delTGTT
ISCN -
DB-ID BMPR1A_000060 See all 29 reported entries
Variant remarks ACMG PVS1, PM2, PM4, PP3
Reference PubMed: Sayed 2002, Journal: Sayed 2002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Karl Heinimann
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BMPR1A NM_004329.2 ?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000219633 DNA PCR - screening BMPR1A 1 Karl Heinimann