ClinVar

NM_000330.4(RS1):c.408C>T (p.Ile136=)

Genes:

CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
RS1:retinoschisin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.13

Genomic location:

• ChrX: 18644544 (on Assembly GRCh38)
• ChrX: 18662664 (on Assembly GRCh37)

Preferred name:

NM_000330.4(RS1):c.408C>T (p.Ile136=)

HGVS:

• NC_000023.11:g.18644544G>A
• NG_008475.1:g.223940G>A
• NG_008659.3:g.37905C>T
• NM_000330.4:c.408C>TMANE SELECT
• NM_001037343.2:c.2714-1463G>A
• NM_003159.3:c.2714-1463G>A
• NP_000321.1:p.Ile136=
• NP_000321.1:p.Ile136=
• LRG_702t1:c.408C>T
• LRG_702:g.37905C>T
• LRG_702p1:p.Ile136=
• NC_000023.10:g.18662664G>A
• NM_000330.3:c.408C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001037343.2:c.2714-1463G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_003159.3:c.2714-1463G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000330.4:c.408C>T - synonymous variant - [Sequence Ontology: SO:0001819]