Variant (rsID / SNP)

rs41548013

rs41548013 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLA1. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

POLA1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp22.11
HGVS: NM_001330360.2(POLA1):c.3622G>C (p.Asp1208His)
Allele change: Missense_D1208H

Associated conditions / phenotypes

X-linked reticulate pigmentary disorder

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.