Transcript #00000017 (NM_004329.2, BMPR1A gene)

Transcript name bone morphogenetic protein receptor, type IA
Gene name BMPR1A (bone morphogenetic protein receptor type 1A)
Chromosome 10
Transcript - NCBI ID NM_004329.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_004320.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

8 entries on 1 page. Showing entries 1 - 8.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
?/? 5UTR c.-14A>G p.(?) Hetero ATM r.(=) -
+/+ 6-10 exon 6-10 deletion p.(?) Hetero N/A r.(?) -
-/- 3 c.4C>A p.(Pro2Thr) Hetero no r.(?) -
-/- 3 c.4C>A p.(Pro2Thr) Hetero no r.(?) -
?/? 7 c.446G>T p.(Gly149Val) Hetero no r.(=) -
?/? 7 c.446G>T p.(Gly149Val) Hetero no r.(=) -
?/? 8 c.536_538del p.(Tyr179del) Hetero no r.(?) RECLASSIFIED MARCH 2018
-?/- 10 c.1140C>T p.(=) Hetero no r.(=) -
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