ClinVar

NM_001202.6(BMP4):c.731C>T (p.Thr244Ile)

Gene:

BMP4:bone morphogenetic protein 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q22.2

Genomic location:

• Chr14: 53950528 (on Assembly GRCh38)
• Chr14: 54417246 (on Assembly GRCh37)

Preferred name:

NM_001202.6(BMP4):c.731C>T (p.Thr244Ile)

HGVS:

• NC_000014.9:g.53950528G>A
• NG_009215.1:g.11309C>T
• NM_001202.6:c.731C>TMANE SELECT
• NM_001347912.1:c.872C>T
• NM_001347913.2:c.542C>T
• NM_001347914.2:c.731C>T
• NM_001347915.2:c.542C>T
• NM_001347916.1:c.731C>T
• NM_001347917.1:c.542C>T
• NM_130850.5:c.731C>T
• NM_130851.4:c.731C>T
• NP_001193.2:p.Thr244Ile
• NP_001334841.1:p.Thr291Ile
• NP_001334842.1:p.Thr181Ile
• NP_001334843.1:p.Thr244Ile
• NP_001334844.1:p.Thr181Ile
• NP_001334845.1:p.Thr244Ile
• NP_001334846.1:p.Thr181Ile
• NP_570911.2:p.Thr244Ile
• NP_570912.2:p.Thr244Ile
• NC_000014.8:g.54417246G>A

This HGVS expression did not pass validation

Protein change:

T181I

Molecular consequence:

• NM_001202.6:c.731C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347912.1:c.872C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347913.2:c.542C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347914.2:c.731C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347915.2:c.542C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347916.1:c.731C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347917.1:c.542C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_130850.5:c.731C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_130851.4:c.731C>T - missense variant - [Sequence Ontology: SO:0001583]