ClinVar

NM_001323289.2(CDKL5):c.1108_1109dup (p.Asn370fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

Xp22.13

Genomic location:

• ChrX: 18604030 - 18604031 (on Assembly GRCh38)
• ChrX: 18622150 - 18622151 (on Assembly GRCh37)

Preferred name:

NM_001323289.2(CDKL5):c.1108_1109dup (p.Asn370fs)

HGVS:

• NC_000023.11:g.18604032_18604033dup
• NG_008475.1:g.183428_183429dup
• NM_001037343.2:c.1108_1109dup
• NM_001323289.2:c.1108_1109dupMANE SELECT
• NM_003159.3:c.1108_1109dup
• NP_001032420.1:p.Asn370fs
• NP_001310218.1:p.Asn370fs
• NP_003150.1:p.Asn370fs
• NC_000023.10:g.18622152_18622153dup

This HGVS expression did not pass validation

Protein change:

N370fs

Links:

dbSNP: rs886043742

NCBI 1000 Genomes Browser:

rs886043742

Molecular consequence:

• NM_001037343.2:c.1108_1109dup - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001323289.2:c.1108_1109dup - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_003159.3:c.1108_1109dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

1