ClinVar

NM_001323289.2(CDKL5):c.1692T>C (p.His564=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.13

Genomic location:

• ChrX: 18604616 (on Assembly GRCh38)
• ChrX: 18622736 (on Assembly GRCh37)

Preferred name:

NM_001323289.2(CDKL5):c.1692T>C (p.His564=)

HGVS:

• NC_000023.11:g.18604616T>C
• NG_008475.1:g.184012T>C
• NM_001037343.2:c.1692T>C
• NM_001323289.2:c.1692T>CMANE SELECT
• NM_003159.3:c.1692T>C
• NP_001032420.1:p.His564=
• NP_001310218.1:p.His564=
• NP_003150.1:p.His564=
• NP_003150.1:p.His564=
• NC_000023.10:g.18622736T>C
• NM_003159.2:c.1692T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs765011302

NCBI 1000 Genomes Browser:

rs765011302

Molecular consequence:

• NM_001037343.2:c.1692T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001323289.2:c.1692T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003159.3:c.1692T>C - synonymous variant - [Sequence Ontology: SO:0001819]