Variant (rsID / SNP)

rs387906995

rs387906995 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDON. Location: chromosome 11, position 125,871,707. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CDONLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:125871707
Cytoband: 11q24.2
HGVS: NM_001378964.1(CDON):c.2065C>G (p.Pro689Ala)
Allele change: Missense_P689A

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.