ClinVar

NM_016938.5(EFEMP2):c.738G>A (p.Glu246=)

Gene:

EFEMP2:EGF containing fibulin extracellular matrix protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.1

Genomic location:

• Chr11: 65868619 (on Assembly GRCh38)
• Chr11: 65636090 (on Assembly GRCh37)

Preferred name:

NM_016938.5(EFEMP2):c.738G>A (p.Glu246=)

HGVS:

• NC_000011.10:g.65868619C>T
• NG_012304.2:g.9316G>A
• NG_053116.1:g.13558C>T
• NM_016938.5:c.738G>AMANE SELECT
• NP_058634.4:p.Glu246=
• NC_000011.9:g.65636090C>T
• NM_016938.4:c.738G>A
• NR_037718.2:n.863G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs144780990

NCBI 1000 Genomes Browser:

rs144780990

Molecular consequence:

• NR_037718.2:n.863G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_016938.5:c.738G>A - synonymous variant - [Sequence Ontology: SO:0001819]