Variant (rsID / SNP)

rs116892729

rs116892729 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SNAP29. Location: chromosome 22, position 21,235,389. Clinical significance in the table: Benign.

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Reference-table entries

SNAP29Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:21235389
Cytoband: 22q11.21
HGVS: NM_004782.4(SNAP29):c.487A>G (p.Ser163Gly)
Allele change: Missense_S163G

Associated conditions / phenotypes

CEDNIK syndrome

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.