ClinVar

NM_001367721.1(CASK):c.2410G>A (p.Glu804Lys)

Gene:

CASK:calcium/calmodulin dependent serine protein kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 41531117 (on Assembly GRCh38)
• ChrX: 41390370 (on Assembly GRCh37)

Preferred name:

NM_001367721.1(CASK):c.2410G>A (p.Glu804Lys)

HGVS:

• NC_000023.11:g.41531117C>T
• NG_016754.2:g.396918G>A
• NM_001126054.3:c.2326G>A
• NM_001126055.3:c.2323G>A
• NM_001367721.1:c.2410G>AMANE SELECT
• NM_001410745.1:c.2392G>A
• NM_003688.4:c.2395G>A
• NP_001119526.1:p.Glu776Lys
• NP_001119526.1:p.Glu776Lys
• NP_001119527.1:p.Glu775Lys
• NP_001119527.1:p.Glu775Lys
• NP_001354650.1:p.Glu804Lys
• NP_001397674.1:p.Glu798Lys
• NP_003679.2:p.Glu799Lys
• NP_003679.2:p.Glu799Lys
• NC_000023.10:g.41390370C>T
• NM_001126054.2:c.2326G>A
• NM_001126055.2:c.2323G>A
• NM_003688.3:c.2395G>A

This HGVS expression did not pass validation

Protein change:

E775K

Links:

dbSNP: rs751235198

NCBI 1000 Genomes Browser:

rs751235198

Molecular consequence:

• NM_001126054.3:c.2326G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126055.3:c.2323G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367721.1:c.2410G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410745.1:c.2392G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003688.4:c.2395G>A - missense variant - [Sequence Ontology: SO:0001583]