Variant (rsID / SNP)

rs180761451

rs180761451 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABHD12. Location: chromosome 20, position 25,288,633. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ABHD12Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 20:25288633
Cytoband: 20p11.21
HGVS: NM_001042472.3(ABHD12):c.836G>A (p.Arg279His)
Allele change: Missense_R279H

Associated conditions / phenotypes

PHARC syndrome

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.