Variant (rsID / SNP)

rs143954823

rs143954823 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OFD1. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

OFD1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xp22.2
HGVS: NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly)
Allele change: Missense_A678G

Associated conditions / phenotypes

History of neurodevelopmental disorder|Joubert syndrome|Orofaciodigital syndrome I

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.