ClinVar

NM_183387.3(EML5):c.4366C>A (p.Pro1456Thr)

Gene:

EML5:EMAP like 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q31.3

Genomic location:

• Chr14: 88627811 (on Assembly GRCh38)
• Chr14: 89094155 (on Assembly GRCh37)

Preferred name:

NM_183387.3(EML5):c.4366C>A (p.Pro1456Thr)

HGVS:

• NC_000014.9:g.88627811G>T
• NG_050601.2:g.69776G>T
• NM_001385116.1:c.4357C>A
• NM_001411033.1:c.4342C>A
• NM_183387.3:c.4366C>AMANE SELECT
• NP_001372045.1:p.Pro1453Thr
• NP_001397962.1:p.Pro1448Thr
• NP_899243.1:p.Pro1456Thr
• NC_000014.8:g.89094155G>T
• NM_183387.2:c.4366C>A

This HGVS expression did not pass validation

Protein change:

P1448T

Molecular consequence:

• NM_001385116.1:c.4357C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001411033.1:c.4342C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_183387.3:c.4366C>A - missense variant - [Sequence Ontology: SO:0001583]