Variant (rsID / SNP)

rs34460295

rs34460295 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC4A11. Location: chromosome 20, position 3,214,895. Clinical significance in the table: Benign.

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Reference-table entries

SLC4A11Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:3214895
Cytoband: 20p13
HGVS: NM_001174089.2(SLC4A11):c.357G>A (p.Ala119=)
Allele change: Synonymous_A119A

Associated conditions / phenotypes

Corneal dystrophy-perceptive deafness syndrome|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.