ClinVar

NM_001323289.2(CDKL5):c.2653G>A (p.Gly885Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.13

Genomic location:

• ChrX: 18628527 (on Assembly GRCh38)
• ChrX: 18646647 (on Assembly GRCh37)

Preferred name:

NM_001323289.2(CDKL5):c.2653G>A (p.Gly885Arg)

HGVS:

• NC_000023.11:g.18628527G>A
• NG_008475.1:g.207923G>A
• NM_001037343.2:c.2653G>A
• NM_001323289.2:c.2653G>AMANE SELECT
• NM_003159.3:c.2653G>A
• NP_001032420.1:p.Gly885Arg
• NP_001310218.1:p.Gly885Arg
• NP_003150.1:p.Gly885Arg
• NP_003150.1:p.Gly885Arg
• NC_000023.10:g.18646647G>A
• NM_003159.2:c.2653G>A

This HGVS expression did not pass validation

Protein change:

G885R

Links:

dbSNP: rs398123694

NCBI 1000 Genomes Browser:

rs398123694

Molecular consequence:

• NM_001037343.2:c.2653G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323289.2:c.2653G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003159.3:c.2653G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1