ClinVar

NM_000330.4(RS1):c.414C>A (p.Thr138=)

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: 18644538 (on Assembly GRCh38)
• ChrX: 18662658 (on Assembly GRCh37)

Preferred name:

NM_000330.4(RS1):c.414C>A (p.Thr138=)

HGVS:

• NC_000023.11:g.18644538G>T
• NG_008475.1:g.223934G>T
• NG_008659.3:g.37911C>A
• NM_000330.4:c.414C>AMANE SELECT
• NM_001037343.2:c.2714-1469G>T
• NM_003159.3:c.2714-1469G>T
• NP_000321.1:p.Thr138=
• NP_000321.1:p.Thr138=
• LRG_702t1:c.414C>A
• LRG_702:g.37911C>A
• LRG_702p1:p.Thr138=
• NC_000023.10:g.18662658G>T
• NC_000023.10:g.18662658G>T
• NM_000330.3:c.414C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1602310733

NCBI 1000 Genomes Browser:

rs1602310733

Molecular consequence:

• NM_001037343.2:c.2714-1469G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003159.3:c.2714-1469G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000330.4:c.414C>A - synonymous variant - [Sequence Ontology: SO:0001819]