Variant (rsID / SNP)

rs139622189

rs139622189 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC9A3R1. Location: chromosome 17, position 72,745,188. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC9A3R1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:72745188
Cytoband: 17q25.1
HGVS: NM_004252.5(SLC9A3R1):c.203A>C (p.Glu68Ala)
Allele change: Missense_E68A

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.