ClinVar

NM_000330.4(RS1):c.221G>T (p.Gly74Val)

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: 18647296 (on Assembly GRCh38)
• ChrX: 18665416 (on Assembly GRCh37)

Preferred name:

NM_000330.4(RS1):c.221G>T (p.Gly74Val)

HGVS:

• NC_000023.11:g.18647296C>A
• NG_008475.1:g.226692C>A
• NG_008659.3:g.35153G>T
• NM_000330.4:c.221G>TMANE SELECT
• NM_001037343.2:c.2797+1206C>A
• NM_003159.3:c.2797+1206C>A
• NP_000321.1:p.Gly74Val
• NP_000321.1:p.Gly74Val
• LRG_702t1:c.221G>T
• LRG_702:g.35153G>T
• LRG_702p1:p.Gly74Val
• NC_000023.10:g.18665416C>A
• NM_000330.3:c.221G>T
• O15537:p.Gly74Val

This HGVS expression did not pass validation

Protein change:

G74V; GLY74VAL

Links:

UniProtKB: O15537#VAR_008182; OMIM: 300839.0005; dbSNP: rs104894933

NCBI 1000 Genomes Browser:

rs104894933

Molecular consequence:

• NM_001037343.2:c.2797+1206C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_003159.3:c.2797+1206C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000330.4:c.221G>T - missense variant - [Sequence Ontology: SO:0001583]