ClinVar

NM_004329.3(BMPR1A):c.1140C>T (p.Asp380=)

Gene:

BMPR1A:bone morphogenetic protein receptor type 1A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.2

Genomic location:

• Chr10: 86919443 (on Assembly GRCh38)
• Chr10: 88679200 (on Assembly GRCh37)

Preferred name:

NM_004329.3(BMPR1A):c.1140C>T (p.Asp380=)

HGVS:

• NC_000010.11:g.86919443C>T
• NG_009362.1:g.167805C>T
• NM_004329.3:c.1140C>TMANE SELECT
• NP_004320.2:p.Asp380=
• NP_004320.2:p.Asp380=
• LRG_298t1:c.1140C>T
• LRG_298:g.167805C>T
• LRG_298p1:p.Asp380=
• NC_000010.10:g.88679200C>T
• NM_004329.2:c.1140C>T
• p.Asp380Asp
• p.D380D

This HGVS expression did not pass validation

Links:

dbSNP: rs35572415

NCBI 1000 Genomes Browser:

rs35572415

Molecular consequence:

• NM_004329.3:c.1140C>T - synonymous variant - [Sequence Ontology: SO:0001819]