ClinVar

NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.13

Genomic location:

• ChrX: 18604816 (on Assembly GRCh38)
• ChrX: 18622936 (on Assembly GRCh37)

Preferred name:

NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr)

Other names:

NM_001323289.2(CDKL5):c.1892T>C; p.Ile631Thr

HGVS:

• NC_000023.11:g.18604816T>C
• NG_008475.1:g.184212T>C
• NM_001037343.2:c.1892T>C
• NM_001323289.2:c.1892T>CMANE SELECT
• NM_003159.3:c.1892T>C
• NP_001032420.1:p.Ile631Thr
• NP_001310218.1:p.Ile631Thr
• NP_003150.1:p.Ile631Thr
• NP_003150.1:p.Ile631Thr
• NC_000023.10:g.18622936T>C
• NM_003159.2:c.1892T>C

This HGVS expression did not pass validation

Protein change:

I631T

Links:

RettBASE (CDKL5): 71; dbSNP: rs144878564

NCBI 1000 Genomes Browser:

rs144878564

Molecular consequence:

• NM_001037343.2:c.1892T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323289.2:c.1892T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_003159.3:c.1892T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1