Variant (rsID / SNP)
rs2013162
rs2013162 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IRF6. Location: chromosome 1, position 209,968,684. Clinical significance in the table: Benign.
Reference-table entries
IRF6Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:209968684
- Cytoband
- 1q32.2
- HGVS
- NM_006147.4(IRF6):c.459G>T (p.Ser153=)
- Allele change
- Synonymous_S153S
Associated conditions / phenotypes
Orofacial cleft 6, susceptibility to|Van der Woude syndrome 1|Popliteal pterygium syndrome|Orofacial cleft 6, susceptibility to|Van der Woude syndrome|Autosomal dominant popliteal pterygium syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.