ClinVar

NM_000330.4(RS1):c.320G>A (p.Gly107Asp)

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: 18647197 (on Assembly GRCh38)
• ChrX: 18665317 (on Assembly GRCh37)

Preferred name:

NM_000330.4(RS1):c.320G>A (p.Gly107Asp)

HGVS:

• NC_000023.11:g.18647197C>T
• NG_008475.1:g.226593C>T
• NG_008659.3:g.35252G>A
• NM_000330.4:c.320G>AMANE SELECT
• NM_001037343.2:c.2797+1107C>T
• NM_003159.3:c.2797+1107C>T
• NP_000321.1:p.Gly107Asp
• NP_000321.1:p.Gly107Asp
• LRG_702t1:c.320G>A
• LRG_702:g.35252G>A
• LRG_702p1:p.Gly107Asp
• NC_000023.10:g.18665317C>T
• NM_000330.3:c.320G>A

This HGVS expression did not pass validation

Protein change:

G107D

Links:

dbSNP: rs143682861

NCBI 1000 Genomes Browser:

rs143682861

Molecular consequence:

• NM_001037343.2:c.2797+1107C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003159.3:c.2797+1107C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000330.4:c.320G>A - missense variant - [Sequence Ontology: SO:0001583]