Variant (rsID / SNP)

rs138984302

rs138984302 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PARN. Location: chromosome 16, position 14,676,128. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PARNBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:14676128
Cytoband: 16p13.12
HGVS: NM_002582.4(PARN):c.1102A>T (p.Ser368Cys)
Allele change: Missense_S322C

Associated conditions / phenotypes

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

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.