ClinVar

NM_001202.6(BMP4):c.345C>T (p.Asn115=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q22.2

Genomic location:

• Chr14: 53951878 (on Assembly GRCh38)
• Chr14: 54418596 (on Assembly GRCh37)

Preferred name:

NM_001202.6(BMP4):c.345C>T (p.Asn115=)

HGVS:

• NC_000014.9:g.53951878G>A
• NG_009215.1:g.9959C>T
• NM_001202.6:c.345C>TMANE SELECT
• NM_001347912.1:c.486C>T
• NM_001347913.2:c.156C>T
• NM_001347914.2:c.345C>T
• NM_001347915.2:c.156C>T
• NM_001347916.1:c.345C>T
• NM_001347917.1:c.156C>T
• NM_130850.5:c.345C>T
• NM_130851.4:c.345C>T
• NP_001193.2:p.Asn115=
• NP_001334841.1:p.Asn162=
• NP_001334842.1:p.Asn52=
• NP_001334843.1:p.Asn115=
• NP_001334844.1:p.Asn52=
• NP_001334845.1:p.Asn115=
• NP_001334846.1:p.Asn52=
• NP_570911.2:p.Asn115=
• NP_570912.2:p.Asn115=
• NC_000014.8:g.54418596G>A
• NM_001202.3:c.345C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs143687498

NCBI 1000 Genomes Browser:

rs143687498

Molecular consequence:

• NM_001202.6:c.345C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347912.1:c.486C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347913.2:c.156C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347914.2:c.345C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347915.2:c.156C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347916.1:c.345C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347917.1:c.156C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_130850.5:c.345C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_130851.4:c.345C>T - synonymous variant - [Sequence Ontology: SO:0001819]