ClinVar

NM_000330.4(RS1):c.184+3199G>A

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: 18653454 (on Assembly GRCh38)
• ChrX: 18671574 (on Assembly GRCh37)

Preferred name:

NM_000330.4(RS1):c.184+3199G>A

Other names:

p.H1001H:CAC>CAT; NM_003159.2(CDKL5):c.3003C>T; p.His1001=

HGVS:

• NC_000023.11:g.18653454C>T
• NG_008475.1:g.232850C>T
• NG_008659.3:g.28995G>A
• NM_000330.4:c.184+3199G>AMANE SELECT
• NM_001037343.2:c.3003C>T
• NM_003159.3:c.3003C>T
• NP_001032420.1:p.His1001=
• NP_003150.1:p.His1001=
• NP_003150.1:p.His1001=
• LRG_702:g.28995G>A
• NC_000023.10:g.18671574C>T
• NM_003159.2:c.3003C>T
• NP_003150.1:p.(=)

This HGVS expression did not pass validation

Links:

RettBASE (CDKL5): 4; dbSNP: rs36022183

NCBI 1000 Genomes Browser:

rs36022183

Molecular consequence:

• NM_000330.4:c.184+3199G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001037343.2:c.3003C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003159.3:c.3003C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2