ClinVar

NM_001323289.2(CDKL5):c.1767C>T (p.His589=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.13

Genomic location:

• ChrX: 18604691 (on Assembly GRCh38)
• ChrX: 18622811 (on Assembly GRCh37)

Preferred name:

NM_001323289.2(CDKL5):c.1767C>T (p.His589=)

Other names:

NM_001323289.2(CDKL5):c.1767C>T; p.His589=

HGVS:

• NC_000023.11:g.18604691C>T
• NG_008475.1:g.184087C>T
• NM_001037343.2:c.1767C>T
• NM_001323289.2:c.1767C>TMANE SELECT
• NM_003159.3:c.1767C>T
• NP_001032420.1:p.His589=
• NP_001310218.1:p.His589=
• NP_003150.1:p.His589=
• NP_003150.1:p.His589=
• NC_000023.10:g.18622811C>T
• NM_003159.2:c.1767C>T

This HGVS expression did not pass validation

Links:

RettBASE (CDKL5): 108; dbSNP: rs267608645

NCBI 1000 Genomes Browser:

rs267608645

Molecular consequence:

• NM_001037343.2:c.1767C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001323289.2:c.1767C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003159.3:c.1767C>T - synonymous variant - [Sequence Ontology: SO:0001819]