Variant (rsID / SNP)

rs144632022

rs144632022 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC22. Clinical significance in the table: Benign.

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Reference-table entries

CCDC22Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xp11.23
HGVS: NM_014008.5(CCDC22):c.1288G>A (p.Ala430Thr)
Allele change: Missense_A430T

Associated conditions / phenotypes

Ritscher-Schinzel syndrome 2

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.