Variant (rsID / SNP)

rs142777869

rs142777869 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TINF2. Location: chromosome 14, position 24,709,952. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TINF2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:24709952
Cytoband: 14q12
HGVS: NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr)
Allele change: Missense_S245Y

Associated conditions / phenotypes

Dyskeratosis congenita, autosomal dominant 1|Dyskeratosis congenita, autosomal dominant 3|Revesz syndrome|Dyskeratosis congenita|Malignant tumor of breast

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.