Variant (rsID / SNP)

rs61758388

rs61758388 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to XYLT1. Location: chromosome 16, position 17,564,311. Clinical significance in the table: Benign.

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Reference-table entries

XYLT1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:17564311
Cytoband: 16p12.3
HGVS: NM_022166.4(XYLT1):c.343G>T (p.Ala115Ser)
Allele change: Missense_A115S

Associated conditions / phenotypes

Pseudoxanthoma elasticum, modifier of severity of|Desbuquois dysplasia 1|Desbuquois dysplasia 2

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.