Variant (rsID / SNP)

rs148555720

rs148555720 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBI. Location: chromosome 5, position 135,390,452. Clinical significance in the table: Benign.

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Reference-table entries

TGFBIBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:135390452
Cytoband: 5q31.1
HGVS: NM_000358.3(TGFBI):c.1312C>T (p.His438Tyr)
Allele change: Missense_H438Y

Associated conditions / phenotypes

Corneal dystrophy

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.