Variant (rsID / SNP)

rs121434287

rs121434287 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC39A4. Location: chromosome 8, position 145,640,679. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SLC39A4Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:145640679
Cytoband: 8q24.3
HGVS: NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu)
Allele change: Missense_P175L

Associated conditions / phenotypes

Hereditary acrodermatitis enteropathica

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.