ClinVar

NM_003377.5(VEGFB):c.147C>T (p.Pro49=)

Gene:

VEGFB:vascular endothelial growth factor B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.1

Genomic location:

• Chr11: 64235856 (on Assembly GRCh38)
• Chr11: 64003328 (on Assembly GRCh37)

Preferred name:

NM_003377.5(VEGFB):c.147C>T (p.Pro49=)

HGVS:

• NC_000011.10:g.64235856C>T
• NG_029823.1:g.6273C>T
• NM_001243733.2:c.147C>T
• NM_003377.5:c.147C>TMANE SELECT
• NP_001230662.1:p.Pro49=
• NP_003368.1:p.Pro49=
• NC_000011.9:g.64003328C>T
• NM_003377.4:c.147C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs61761266

NCBI 1000 Genomes Browser:

rs61761266

Molecular consequence:

• NM_001243733.2:c.147C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003377.5:c.147C>T - synonymous variant - [Sequence Ontology: SO:0001819]