ClinVar

NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val)

Gene:

NEK1:NIMA related kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q33

Genomic location:

• Chr4: 169555974 (on Assembly GRCh38)
• Chr4: 170477125 (on Assembly GRCh37)

Preferred name:

NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val)

HGVS:

• NC_000004.12:g.169555974G>A
• NG_027982.1:g.61654C>T
• NM_001199397.3:c.1388C>TMANE SELECT
• NM_001199398.3:c.1388C>T
• NM_001199399.3:c.1313C>T
• NM_001199400.3:c.1388C>T
• NM_001374418.1:c.1388C>T
• NM_001374419.1:c.1388C>T
• NM_001374420.1:c.1337C>T
• NM_001374421.1:c.1262C>T
• NM_012224.4:c.1388C>T
• NP_001186326.1:p.Ala463Val
• NP_001186327.1:p.Ala463Val
• NP_001186328.1:p.Ala438Val
• NP_001186329.1:p.Ala463Val
• NP_001361347.1:p.Ala463Val
• NP_001361348.1:p.Ala463Val
• NP_001361349.1:p.Ala446Val
• NP_001361350.1:p.Ala421Val
• NP_036356.1:p.Ala463Val
• NC_000004.11:g.170477125G>A
• NM_001199397.1:c.1388C>T
• NM_012224.2:c.1388C>T
• NR_164630.1:n.1902C>T
• Q96PY6:p.Ala463Val

This HGVS expression did not pass validation

Protein change:

A421V

Links:

UniProtKB: Q96PY6#VAR_040905; dbSNP: rs34540355

NCBI 1000 Genomes Browser:

rs34540355

Molecular consequence:

• NM_001199397.3:c.1388C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199398.3:c.1388C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199399.3:c.1313C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199400.3:c.1388C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374418.1:c.1388C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374419.1:c.1388C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374420.1:c.1337C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374421.1:c.1262C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_012224.4:c.1388C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_164630.1:n.1902C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]