Variant (rsID / SNP)

rs104893916

rs104893916 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A2. Location: chromosome 5, position 149,361,189. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SLC26A2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:149361189
Cytoband: 5q32
HGVS: NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val)
Allele change: Missense_G678V

Associated conditions / phenotypes

Achondrogenesis, type IB|Diastrophic dysplasia|Multiple epiphyseal dysplasia type 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.