Variant (rsID / SNP)

rs201257588

rs201257588 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBC1D24. Location: chromosome 16, position 2,546,207. 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: 16:2546207
Cytoband: 16p13.3
HGVS: NM_001199107.2(TBC1D24):c.58C>G (p.Gln20Glu)
Allele change: Nonsense_Q20X

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.