Variant (rsID / SNP)

rs797044548

rs797044548 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBC1D24. Location: chromosome 16, position 2,548,254. Clinical significance in the table: Pathogenic.

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Reference-table entries

TBC1D24Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:2548254
Cytoband: 16p13.3
HGVS: NM_001199107.2(TBC1D24):c.999G>T (p.Leu333Phe)
Allele change: Missense_L333F

Associated conditions / phenotypes

DOORS syndrome

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.