ClinVar

NM_006129.5(BMP1):c.108C>T (p.Asp36=)

Genes:

LOC129999976:ATAC-STARR-seq lymphoblastoid silent region 18982 [Gene]
BMP1:bone morphogenetic protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.3

Genomic location:

• Chr8: 22165513 (on Assembly GRCh38)
• Chr8: 22023026 (on Assembly GRCh37)

Preferred name:

NM_006129.5(BMP1):c.108C>T (p.Asp36=)

HGVS:

• NC_000008.11:g.22165513C>T
• NG_016968.1:g.8843C>T
• NG_029659.1:g.5374C>T
• NM_001199.4:c.108C>T
• NM_006129.5:c.108C>TMANE SELECT
• NP_001190.1:p.Asp36=
• NP_006120.1:p.Asp36=
• NC_000008.10:g.22023026C>T
• NR_033403.2:n.142C>T
• NR_033404.2:n.142C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs144114975

NCBI 1000 Genomes Browser:

rs144114975

Molecular consequence:

• NR_033403.2:n.142C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_033404.2:n.142C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001199.4:c.108C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006129.5:c.108C>T - synonymous variant - [Sequence Ontology: SO:0001819]