ClinVar

NM_001323289.2(CDKL5):c.1111del (p.Ala372fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

Xp22.13

Genomic location:

• ChrX: 18604034 (on Assembly GRCh38)
• ChrX: 18622154 (on Assembly GRCh37)

Preferred name:

NM_001323289.2(CDKL5):c.1111del (p.Ala372fs)

Other names:

NM_001323289.2(CDKL5):c.1111del; p.Ala372fs

HGVS:

• NC_000023.11:g.18604035del
• NG_008475.1:g.183431del
• NM_001037343.2:c.1111del
• NM_001323289.2:c.1111delMANE SELECT
• NM_003159.3:c.1111del
• NP_001032420.1:p.Ala372fs
• NP_001310218.1:p.Ala372fs
• NP_003150.1:p.Ala372fs
• NC_000023.10:g.18622155del

This HGVS expression did not pass validation

Protein change:

A372fs

Links:

dbSNP: rs1555951958

NCBI 1000 Genomes Browser:

rs1555951958

Molecular consequence:

• NM_001037343.2:c.1111del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001323289.2:c.1111del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_003159.3:c.1111del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

1