Variant (rsID / SNP)

rs121909069

rs121909069 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGIF1. Location: chromosome 18, position 3,457,604. Clinical significance in the table: Pathogenic.

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Reference-table entries

TGIF1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:3457604
Cytoband: 18p11.31
HGVS: NM_003244.4(TGIF1):c.485C>T (p.Ser162Phe)
Allele change: Missense_S142F

Associated conditions / phenotypes

Holoprosencephaly 4

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.