ClinVar

NM_000330.4(RS1):c.523-2A>G

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: 18642158 (on Assembly GRCh38)
• ChrX: 18660278 (on Assembly GRCh37)

Preferred name:

NM_000330.4(RS1):c.523-2A>G

HGVS:

• NC_000023.11:g.18642158T>C
• NG_008475.1:g.221554T>C
• NG_008659.3:g.40291A>G
• NM_000330.4:c.523-2A>GMANE SELECT
• NM_001037343.2:c.2714-3849T>C
• NM_003159.3:c.2714-3849T>C
• LRG_702t1:c.523-2A>G
• LRG_702:g.40291A>G
• NC_000023.10:g.18660278T>C
• NM_000330.3:c.523-2A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs281865349

NCBI 1000 Genomes Browser:

rs281865349

Molecular consequence:

• NM_001037343.2:c.2714-3849T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_003159.3:c.2714-3849T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000330.4:c.523-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]