ClinVar

NM_001047160.3(NET1):c.1547C>T (p.Pro516Leu)

Gene:

NET1:neuroepithelial cell transforming 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p15.1

Genomic location:

• Chr10: 5456750 (on Assembly GRCh38)
• Chr10: 5498713 (on Assembly GRCh37)

Preferred name:

NM_001047160.3(NET1):c.1547C>T (p.Pro516Leu)

HGVS:

• NC_000010.11:g.5456750C>T
• NG_050652.1:g.49200C>T
• NG_050652.2:g.49195C>T
• NM_001047160.3:c.1547C>TMANE SELECT
• NM_005863.5:c.1385C>T
• NP_001040625.1:p.Pro516Leu
• NP_005854.2:p.Pro462Leu
• NC_000010.10:g.5498713C>T
• NM_001047160.1:c.1547C>T
• NR_073040.1:n.1633C>T

This HGVS expression did not pass validation

Protein change:

P462L

Molecular consequence:

• NM_001047160.3:c.1547C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005863.5:c.1385C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_073040.1:n.1633C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]