ClinVar

NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

Xp22.13

Genomic location:

• ChrX: 18604169 - 18604170 (on Assembly GRCh38)
• ChrX: 18622289 - 18622290 (on Assembly GRCh37)

Preferred name:

NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs)

Other names:

NM_001323289.2(CDKL5):c.1247_1248del; p.Glu416fs

HGVS:

• NC_000023.11:g.18604169AG[1]
• NG_008475.1:g.183565AG[1]
• NM_001037343.2:c.1247_1248del
• NM_001323289.2:c.1247_1248delMANE SELECT
• NM_003159.3:c.1247_1248del
• NP_001032420.1:p.Glu416fs
• NP_001310218.1:p.Glu416fs
• NP_003150.1:p.Glu416fs
• NC_000023.10:g.18622289AG[1]
• NC_000023.10:g.18622289_18622290del
• NC_000023.11:g.18604171_18604172delAG
• NM_003159.2(CDKL5):c.1247_1248delAG
• NM_003159.2:c.1247_1248delAG
• p.Glu416Valfs

This HGVS expression did not pass validation

Protein change:

E416fs

Links:

dbSNP: rs786204967

NCBI 1000 Genomes Browser:

rs786204967

Molecular consequence:

• NM_001037343.2:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001323289.2:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_003159.3:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

1