Variant (rsID / SNP)

rs148219285

rs148219285 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACP5. Location: chromosome 19, position 11,687,604. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ACP5Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:11687604
Cytoband: 19p13.2
HGVS: NM_001611.5(ACP5):c.316G>A (p.Val106Met)
Allele change: Missense_V106M

Associated conditions / phenotypes

Spondyloenchondrodysplasia with immune dysregulation

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.