Variant (rsID / SNP)

rs113921147

rs113921147 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDON. Location: chromosome 11, position 125,853,839. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CDONBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:125853839
Cytoband: 11q24.2
HGVS: NM_001378964.1(CDON):c.2923G>A (p.Val975Ile)
Allele change: Missense_V975I

Associated conditions / phenotypes

Holoprosencephaly 11

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.