Variant (rsID / SNP)

rs144659773

rs144659773 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAFAH1B1. Location: chromosome 17, position 2,579,856. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PAFAH1B1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:2579856
Cytoband: 17p13.3
HGVS: NM_000430.4(PAFAH1B1):c.958A>G (p.Ile320Val)
Allele change: Missense_I320V

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.