Variant (rsID / SNP)

rs267607066

rs267607066 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC4A11. Location: chromosome 20, position 3,209,333. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SLC4A11Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 20:3209333
Cytoband: 20p13
HGVS: NM_001174089.2(SLC4A11):c.2213C>T (p.Thr738Met)
Allele change: Missense_T738M

Associated conditions / phenotypes

Corneal dystrophy, Fuchs endothelial, 4

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.