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Variant (rsID / SNP)

rs140574574

SLC39A13

rs140574574 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC39A13. Location: chromosome 11, position 47,433,573. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC39A13Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:47433573
Cytoband
11p11.2
HGVS
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)
Allele change
Silent

Associated conditions / phenotypes

6 conditions|Ehlers-Danlos syndrome, spondylocheirodysplastic type|Connective tissue disorder|Ehlers-Danlos syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.