Variant (rsID / SNP)

rs41306784

rs41306784 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABHD12. Location: chromosome 20, position 25,289,111. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ABHD12Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 20:25289111
Cytoband: 20p11.21
HGVS: NM_001042472.3(ABHD12):c.769C>T (p.Arg257Trp)
Allele change: Missense_R257W

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.