ClinVar

NM_001323289.2(CDKL5):c.1288G>A (p.Gly430Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.13

Genomic location:

• ChrX: 18604212 (on Assembly GRCh38)
• ChrX: 18622332 (on Assembly GRCh37)

Preferred name:

NM_001323289.2(CDKL5):c.1288G>A (p.Gly430Arg)

HGVS:

• NC_000023.11:g.18604212G>A
• NG_008475.1:g.183608G>A
• NM_001037343.2:c.1288G>A
• NM_001323289.2:c.1288G>AMANE SELECT
• NM_003159.3:c.1288G>A
• NP_001032420.1:p.Gly430Arg
• NP_001310218.1:p.Gly430Arg
• NP_003150.1:p.Gly430Arg
• NC_000023.10:g.18622332G>A
• NM_003159.2:c.1288G>A

This HGVS expression did not pass validation

Protein change:

G430R

Molecular consequence:

• NM_001037343.2:c.1288G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323289.2:c.1288G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003159.3:c.1288G>A - missense variant - [Sequence Ontology: SO:0001583]