ClinVar

NM_001323289.2(CDKL5):c.1745C>T (p.Ser582Phe)

Gene:

CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.13

Genomic location:

• ChrX: 18604669 (on Assembly GRCh38)
• ChrX: 18622789 (on Assembly GRCh37)

Preferred name:

NM_001323289.2(CDKL5):c.1745C>T (p.Ser582Phe)

HGVS:

• NC_000023.11:g.18604669C>T
• NG_008475.1:g.184065C>T
• NM_001037343.2:c.1745C>T
• NM_001323289.2:c.1745C>TMANE SELECT
• NM_003159.3:c.1745C>T
• NP_001032420.1:p.Ser582Phe
• NP_001310218.1:p.Ser582Phe
• NP_003150.1:p.Ser582Phe
• NC_000023.10:g.18622789C>T
• NM_003159.2:c.1745C>T

This HGVS expression did not pass validation

Protein change:

S582F

Links:

dbSNP: rs1378912528

NCBI 1000 Genomes Browser:

rs1378912528

Molecular consequence:

• NM_001037343.2:c.1745C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323289.2:c.1745C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003159.3:c.1745C>T - missense variant - [Sequence Ontology: SO:0001583]