ClinVar

NM_199173.6(BGLAP):c.51C>T (p.Ile17=)

Genes:

PMF1-BGLAP:PMF1-BGLAP readthrough [Gene - HGNC]
BGLAP:bone gamma-carboxyglutamate protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 156242282 (on Assembly GRCh38)
• Chr1: 156212073 (on Assembly GRCh37)

Preferred name:

NM_199173.6(BGLAP):c.51C>T (p.Ile17=)

HGVS:

• NC_000001.11:g.156242282C>T
• NG_047015.1:g.5123C>T
• NG_053096.1:g.1539C>T
• NM_001199661.1:c.504-271C>T
• NM_001199662.1:c.565-271C>T
• NM_001199663.1:c.369-271C>T
• NM_001199664.1:c.358-271C>T
• NM_199173.6:c.51C>TMANE SELECT
• NP_954642.1:p.Ile17=
• NC_000001.10:g.156212073C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001199661.1:c.504-271C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199662.1:c.565-271C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199663.1:c.369-271C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199664.1:c.358-271C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_199173.6:c.51C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1