Variant (rsID / SNP)

rs28939693

rs28939693 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGIF1. Location: chromosome 18, position 3,457,439. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TGIF1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 18:3457439
Cytoband: 18p11.31
HGVS: NM_003244.4(TGIF1):c.320A>T (p.Gln107Leu)
Allele change: Missense_Q87L

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.