Variant #0000541318 (NC_000010.10:g.88515881G>C, BMPR1A(NM_004329.2):c.-1063G>C)

Chromosome 10
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.88515881G>C
DNA change (hg38) g.86756124G>C
Published as BMPR1A(NM_004329.2):c.-1063G>C
ISCN -
DB-ID BMPR1A_000137
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BMPR1A NM_004329.2 -/. - c.-1063G>C r.(?) p.(=)