ClinVar

NM_000330.4(RS1):c.655del (p.Cys219fs)

Genes:

CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
RS1:retinoschisin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xp22.13

Genomic location:

• ChrX: 18642024 (on Assembly GRCh38)
• ChrX: 18660144 (on Assembly GRCh37)

Preferred name:

NM_000330.4(RS1):c.655del (p.Cys219fs)

HGVS:

• NC_000023.11:g.18642024del
• NG_008475.1:g.221420del
• NG_008659.3:g.40425del
• NM_000330.4:c.655delMANE SELECT
• NM_001037343.2:c.2714-3983del
• NM_003159.3:c.2714-3983del
• NP_000321.1:p.Cys219Alafs
• NP_000321.1:p.Cys219fs
• LRG_702t1:c.655del
• LRG_702:g.40425del
• LRG_702p1:p.Cys219Alafs
• NC_000023.10:g.18660144del
• NM_000330.3:c.655delT
• NM_000330.3:c.655delT

This HGVS expression did not pass validation

Protein change:

C219fs

Links:

dbSNP: rs281865370

NCBI 1000 Genomes Browser:

rs281865370

Molecular consequence:

• NM_000330.4:c.655del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001037343.2:c.2714-3983del - intron variant - [Sequence Ontology: SO:0001627]
• NM_003159.3:c.2714-3983del - intron variant - [Sequence Ontology: SO:0001627]