Variant (rsID / SNP)

rs35741412

rs35741412 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC39A13. Location: chromosome 11, position 47,431,764. Clinical significance in the table: Benign.

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Reference-table entries

SLC39A13Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:47431764
Cytoband: 11p11.2
HGVS: NM_001128225.3(SLC39A13):c.119G>A (p.Arg40Gln)
Allele change: Silent

Associated conditions / phenotypes

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

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.