Variant (rsID / SNP)

rs41268753

rs41268753 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRHL3. Location: chromosome 1, position 24,669,457. Clinical significance in the table: Benign.

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Reference-table entries

GRHL3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:24669457
Cytoband: 1p36.11
HGVS: NM_198173.3(GRHL3):c.1361C>T (p.Thr454Met)
Allele change: Missense_T454M

Associated conditions / phenotypes

Van der Woude syndrome 2

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.