Variant (rsID / SNP)
rs199422322
rs199422322 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGM1, TINF2. Location: chromosome 14, position 24,709,845. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TGM1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:24709845
- Cytoband
- 14q12
- HGVS
- NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys)
- Allele change
- Missense_E281K
Associated conditions / phenotypes
Dyskeratosis congenita, autosomal dominant 1|Dyskeratosis congenita, autosomal dominant 3|Revesz syndrome|Dyskeratosis congenita|Autosomal recessive congenital ichthyosis 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.