Variant (rsID / SNP)

rs14008

rs14008 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TACSTD2. Location: chromosome 1, position 59,042,181. Clinical significance in the table: Benign.

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Reference-table entries

TACSTD2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:59042181
Cytoband: 1p32.1
HGVS: NM_002353.3(TACSTD2):c.648C>A (p.Asp216Glu)
Allele change: Missense_D216E

Associated conditions / phenotypes

Lattice corneal dystrophy Type III

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.