ClinVar

NM_001323289.2(CDKL5):c.1897C>T (p.Gln633Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.13

Genomic location:

• ChrX: 18604821 (on Assembly GRCh38)
• ChrX: 18622941 (on Assembly GRCh37)

Preferred name:

NM_001323289.2(CDKL5):c.1897C>T (p.Gln633Ter)

HGVS:

• NC_000023.11:g.18604821C>T
• NG_008475.1:g.184217C>T
• NM_001037343.2:c.1897C>T
• NM_001323289.2:c.1897C>TMANE SELECT
• NM_003159.3:c.1897C>T
• NP_001032420.1:p.Gln633Ter
• NP_001310218.1:p.Gln633Ter
• NP_003150.1:p.Gln633Ter
• NP_003150.1:p.Gln633Ter
• NC_000023.10:g.18622941C>T
• NM_003159.2:c.1897C>T
• p.(Gln633)*

This HGVS expression did not pass validation

Protein change:

Q633*

Links:

dbSNP: rs863225065

NCBI 1000 Genomes Browser:

rs863225065

Molecular consequence:

• NM_001037343.2:c.1897C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001323289.2:c.1897C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_003159.3:c.1897C>T - nonsense - [Sequence Ontology: SO:0001587]