ClinVar

NM_003157.6(NEK4):c.2153T>C (p.Leu718Pro)

Gene:

NEK4:NIMA related kinase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.1

Genomic location:

• Chr3: 52739575 (on Assembly GRCh38)
• Chr3: 52773591 (on Assembly GRCh37)

Preferred name:

NM_003157.6(NEK4):c.2153T>C (p.Leu718Pro)

HGVS:

• NC_000003.12:g.52739575A>G
• NG_053026.1:g.36375T>C
• NM_001193533.3:c.1886T>C
• NM_001348412.2:c.2015T>C
• NM_001348413.2:c.2015T>C
• NM_001348414.2:c.1907T>C
• NM_003157.6:c.2153T>CMANE SELECT
• NP_001180462.1:p.Leu629Pro
• NP_001335341.1:p.Leu672Pro
• NP_001335342.1:p.Leu672Pro
• NP_001335343.1:p.Leu636Pro
• NP_003148.2:p.Leu718Pro
• NC_000003.11:g.52773591A>G
• NM_003157.4:c.2153T>C

This HGVS expression did not pass validation

Protein change:

L629P

Molecular consequence:

• NM_001193533.3:c.1886T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348412.2:c.2015T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348413.2:c.2015T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348414.2:c.1907T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_003157.6:c.2153T>C - missense variant - [Sequence Ontology: SO:0001583]