ClinVar

NM_015441.3(OLFML2B):c.400C>T (p.Leu134Phe)

Gene:

OLFML2B:olfactomedin like 2B [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

• Chr1: 162019957 (on Assembly GRCh38)
• Chr1: 161989747 (on Assembly GRCh37)

Preferred name:

NM_015441.3(OLFML2B):c.400C>T (p.Leu134Phe)

HGVS:

• NC_000001.11:g.162019957G>A
• NG_052853.1:g.9509C>T
• NM_001297713.2:c.400C>T
• NM_001347700.2:c.400C>T
• NM_015441.3:c.400C>TMANE SELECT
• NP_001284642.1:p.Leu134Phe
• NP_001334629.1:p.Leu134Phe
• NP_056256.1:p.Leu134Phe
• NC_000001.10:g.161989747G>A
• NM_015441.1:c.400C>T

This HGVS expression did not pass validation

Protein change:

L134F

Molecular consequence:

• NM_001297713.2:c.400C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347700.2:c.400C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015441.3:c.400C>T - missense variant - [Sequence Ontology: SO:0001583]