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Variant (rsID / SNP)

rs201765587

PARN

rs201765587 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PARN. Location: chromosome 16, position 14,721,018. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PARNConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:14721018
Cytoband
16p13.12
HGVS
NM_002582.4(PARN):c.272A>G (p.Tyr91Cys)
Allele change
Silent

Associated conditions / phenotypes

Dyskeratosis congenita, autosomal recessive 6|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|Dyskeratosis congenita, autosomal recessive 6

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.