ClinVar

NM_000330.4(RS1):c.418G>A (p.Gly140Arg)

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: 18644534 (on Assembly GRCh38)
• ChrX: 18662654 (on Assembly GRCh37)

Preferred name:

NM_000330.4(RS1):c.418G>A (p.Gly140Arg)

HGVS:

• NC_000023.11:g.18644534C>T
• NG_008475.1:g.223930C>T
• NG_008659.3:g.37915G>A
• NM_000330.4:c.418G>AMANE SELECT
• NM_001037343.2:c.2714-1473C>T
• NM_003159.3:c.2714-1473C>T
• NP_000321.1:p.Gly140Arg
• NP_000321.1:p.Gly140Arg
• LRG_702t1:c.418G>A
• LRG_702:g.37915G>A
• LRG_702p1:p.Gly140Arg
• NC_000023.10:g.18662654C>T
• NM_000330.3:c.418G>A
• O15537:p.Gly140Arg

This HGVS expression did not pass validation

Protein change:

G140R

Links:

UniProtKB: O15537#VAR_008230; dbSNP: rs61752156

NCBI 1000 Genomes Browser:

rs61752156

Molecular consequence:

• NM_001037343.2:c.2714-1473C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003159.3:c.2714-1473C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000330.4:c.418G>A - missense variant - [Sequence Ontology: SO:0001583]