Variant (rsID / SNP)

rs148546326

rs148546326 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A5. Location: chromosome 7, position 103,018,088. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SLC26A5Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:103018088
Cytoband: 7q22.1
HGVS: NM_198999.3(SLC26A5):c.1944A>C (p.Gln648His)
Allele change: Missense_Q648H

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.