Variant (rsID / SNP)

rs2228001

rs2228001 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM43, XPC. Location: chromosome 3, position 14,187,449. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TMEM43Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:14187449
Cytoband: 3p25.1
HGVS: NM_004628.5(XPC):c.2815C>A (p.Gln939Lys)
Allele change: Silent

Associated conditions / phenotypes

Xeroderma pigmentosum|Arrhythmogenic right ventricular cardiomyopathy|Xeroderma pigmentosum, group C

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.