Variant (rsID / SNP)

rs121918544

rs121918544 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TINF2. Location: chromosome 14, position 24,709,841. Clinical significance in the table: Pathogenic.

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Reference-table entries

TINF2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:24709841
Cytoband: 14q12
HGVS: NM_001099274.3(TINF2):c.845G>A (p.Arg282His)
Allele change: Missense_R282H

Associated conditions / phenotypes

Dyskeratosis congenita, autosomal dominant 3|Revesz syndrome|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.