ClinVar

NM_001323289.2(CDKL5):c.978-49_978-41del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

Xp22.13

Genomic location:

• ChrX: 18603852 - 18603860 (on Assembly GRCh38)
• ChrX: 18621972 - 18621980 (on Assembly GRCh37)

Preferred name:

NM_001323289.2(CDKL5):c.978-49_978-41del

HGVS:

• NC_000023.11:g.18603853_18603861del
• NG_008475.1:g.183249_183257del
• NM_001037343.2:c.978-49_978-41del
• NM_001323289.2:c.978-49_978-41delMANE SELECT
• NM_003159.3:c.978-49_978-41del
• NC_000023.10:g.18621973_18621981del
• NM_003159.2:c.978-49_978-41del9

This HGVS expression did not pass validation

Links:

RettBASE (CDKL5): 38; dbSNP: rs267608554

NCBI 1000 Genomes Browser:

rs267608554

Molecular consequence:

• NM_001037343.2:c.978-49_978-41del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001323289.2:c.978-49_978-41del - intron variant - [Sequence Ontology: SO:0001627]
• NM_003159.3:c.978-49_978-41del - intron variant - [Sequence Ontology: SO:0001627]