Variant (rsID / SNP)

rs121909388

rs121909388 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC4A11. Location: chromosome 20, position 3,210,904. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SLC4A11Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:3210904
Cytoband: 20p13
HGVS: NM_001174089.2(SLC4A11):c.1418C>T (p.Ser473Leu)
Allele change: Missense_S473L

Associated conditions / phenotypes

Congenital hereditary endothelial dystrophy of cornea

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.