ClinVar

NM_000330.4(RS1):c.409C>T (p.Leu137Phe)

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: 18644543 (on Assembly GRCh38)
• ChrX: 18662663 (on Assembly GRCh37)

Preferred name:

NM_000330.4(RS1):c.409C>T (p.Leu137Phe)

HGVS:

• NC_000023.11:g.18644543G>A
• NG_008475.1:g.223939G>A
• NG_008659.3:g.37906C>T
• NM_000330.4:c.409C>TMANE SELECT
• NM_001037343.2:c.2714-1464G>A
• NM_003159.3:c.2714-1464G>A
• NP_000321.1:p.Leu137Phe
• NP_000321.1:p.Leu137Phe
• LRG_702t1:c.409C>T
• LRG_702:g.37906C>T
• LRG_702p1:p.Leu137Phe
• NC_000023.10:g.18662663G>A
• NM_000330.3:c.409C>T

This HGVS expression did not pass validation

Protein change:

L137F

Links:

dbSNP: rs1927700931

NCBI 1000 Genomes Browser:

rs1927700931

Molecular consequence:

• NM_001037343.2:c.2714-1464G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_003159.3:c.2714-1464G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000330.4:c.409C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1