ClinVar

NM_001720.5(BMP8B):c.673+3659A>G

Genes:

OXCT2:3-oxoacid CoA-transferase 2 [Gene - OMIM - HGNC]
BMP8B:bone morphogenetic protein 8b [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.2

Genomic location:

• Chr1: 39770649 (on Assembly GRCh38)
• Chr1: 40236321 (on Assembly GRCh37)

Preferred name:

NM_001720.5(BMP8B):c.673+3659A>G

HGVS:

• NC_000001.11:g.39770649T>C
• NG_090698.1:g.29T>C
• NM_001720.5:c.673+3659A>GMANE SELECT
• NM_022120.2:c.607A>GMANE SELECT
• NP_071403.1:p.Ile203Val
• NC_000001.10:g.40236321T>C

This HGVS expression did not pass validation

Protein change:

I203V

Molecular consequence:

• NM_001720.5:c.673+3659A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_022120.2:c.607A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1