ClinVar

NM_001323289.2(CDKL5):c.1616G>C (p.Arg539Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.13

Genomic location:

• ChrX: 18604540 (on Assembly GRCh38)
• ChrX: 18622660 (on Assembly GRCh37)

Preferred name:

NM_001323289.2(CDKL5):c.1616G>C (p.Arg539Thr)

HGVS:

• NC_000023.11:g.18604540G>C
• NG_008475.1:g.183936G>C
• NM_001037343.2:c.1616G>C
• NM_001323289.2:c.1616G>CMANE SELECT
• NM_003159.3:c.1616G>C
• NP_001032420.1:p.Arg539Thr
• NP_001310218.1:p.Arg539Thr
• NP_003150.1:p.Arg539Thr
• NC_000023.10:g.18622660G>C

This HGVS expression did not pass validation

Protein change:

R539T

Links:

dbSNP: rs1356745875

NCBI 1000 Genomes Browser:

rs1356745875

Molecular consequence:

• NM_001037343.2:c.1616G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323289.2:c.1616G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_003159.3:c.1616G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1