ClinVar

NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.13

Genomic location:

• ChrX: 18604572 (on Assembly GRCh38)
• ChrX: 18622692 (on Assembly GRCh37)

Preferred name:

NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)

Other names:

p.R550*:CGA>TGA; p.R550*

HGVS:

• NC_000023.11:g.18604572C>T
• NG_008475.1:g.183968C>T
• NM_001037343.2:c.1648C>T
• NM_001323289.2:c.1648C>TMANE SELECT
• NM_003159.3:c.1648C>T
• NP_001032420.1:p.Arg550Ter
• NP_001032420.1:p.Arg550Ter
• NP_001310218.1:p.Arg550Ter
• NP_003150.1:p.Arg550Ter
• NP_003150.1:p.Arg550Ter
• NC_000023.10:g.18622692C>T
• NM_001037343.1:c.1648C>T
• NM_001323289.1:c.1648C>T
• NM_003159.2:c.1648C>T

This HGVS expression did not pass validation

Protein change:

R550*

Links:

RettBASE (CDKL5): 47; dbSNP: rs267608643

NCBI 1000 Genomes Browser:

rs267608643

Molecular consequence:

• NM_001037343.2:c.1648C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001323289.2:c.1648C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_003159.3:c.1648C>T - nonsense - [Sequence Ontology: SO:0001587]