Variant (rsID / SNP)

rs192423622

rs192423622 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TINF2. Location: chromosome 14, position 24,709,325. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TINF2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 14:24709325
Cytoband: 14q12
HGVS: NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr)
Allele change: Silent

Associated conditions / phenotypes

Dyskeratosis congenita

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.