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Variant (rsID / SNP)

rs267607109

TGFBI

rs267607109 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBI. Location: chromosome 5, position 135,392,443. Clinical significance in the table: no interpretation for the single variant.

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Reference-table entries

TGFBIOther
Clinical significance (as recorded)
no interpretation for the single variant
Variant type
single nucleotide variant
Chromosome / position
5:135392443
Cytoband
5q31.1
HGVS
NM_000358.3(TGFBI):c.1637C>A (p.Ala546Asp)
Allele change
Missense_A546D

Associated conditions / phenotypes

Corneal Dystrophy, Lattice Type I

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.