Variant (rsID / SNP)

rs121909394

rs121909394 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC4A11. Location: chromosome 20, position 3,208,983. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SLC4A11Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:3208983
Cytoband: 20p13
HGVS: NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro)
Allele change: Missense_L827P

Associated conditions / phenotypes

Corneal dystrophy-perceptive deafness syndrome

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.