Variant (rsID / SNP)

rs121908078

rs121908078 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A2. Location: chromosome 5, position 149,360,691. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC26A2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:149360691
Cytoband: 5q32
HGVS: NM_000112.4(SLC26A2):c.1535C>A (p.Thr512Lys)
Allele change: Missense_T512K

Associated conditions / phenotypes

de la Chapelle dysplasia|Diastrophic dysplasia

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.