Variant (rsID / SNP)

rs546044640

rs546044640 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASK. Clinical significance in the table: Benign.

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Reference-table entries

CASKBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xp11.4
HGVS: NM_001367721.1(CASK):c.2019T>G (p.Pro673_Ser674=)
Allele change: Synonymous_P650P

Associated conditions / phenotypes

History of neurodevelopmental disorder|Intellectual disability, CASK-related, X-linked

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.