ClinVar

NM_025052.5(MAP3K19):c.1619C>T (p.Ser540Leu)

Gene:

MAP3K19:mitogen-activated protein kinase kinase kinase 19 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q21.3

Genomic location:

• Chr2: 134987253 (on Assembly GRCh38)
• Chr2: 135744823 (on Assembly GRCh37)

Preferred name:

NM_025052.5(MAP3K19):c.1619C>T (p.Ser540Leu)

HGVS:

• NC_000002.12:g.134987253G>A
• NM_001018044.3:c.1280C>T
• NM_001018046.3:c.619-3428C>T
• NM_001018047.3:c.619-3428C>T
• NM_001282883.2:c.618+4284C>T
• NM_001321177.2:c.1670C>T
• NM_001400438.1:c.1619C>T
• NM_025052.5:c.1619C>TMANE SELECT
• NP_001018054.1:p.Ser427Leu
• NP_001308106.1:p.Ser557Leu
• NP_001387367.1:p.Ser540Leu
• NP_079328.3:p.Ser540Leu
• NC_000002.11:g.135744823G>A
• NM_025052.3:c.1619C>T

This HGVS expression did not pass validation

Protein change:

S427L

Molecular consequence:

• NM_001018046.3:c.619-3428C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001018047.3:c.619-3428C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282883.2:c.618+4284C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001018044.3:c.1280C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321177.2:c.1670C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001400438.1:c.1619C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_025052.5:c.1619C>T - missense variant - [Sequence Ontology: SO:0001583]