Variant (rsID / SNP)

rs199422311

rs199422311 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TINF2. Location: chromosome 14, position 24,709,839. The table records no clinical significance for this variant.

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Reference-table entries

TINF2Not classified

Variant type: single nucleotide variant
Chromosome / position: 14:24709839
Cytoband: 14q12
HGVS: NM_001099274.3(TINF2):c.847C>G (p.Pro283Ala)
Allele change: Missense_P283S

Associated conditions / phenotypes

Dyskeratosis congenita, autosomal dominant 1

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.