Variant (rsID / SNP)
rs373434281
rs373434281 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCF4. Location: chromosome 18, position 52,937,203. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TCF4Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:52937203
- Cytoband
- 18q21.2
- HGVS
- NM_001083962.2(TCF4):c.790-9T>C
- Allele change
- Silent
Associated conditions / phenotypes
Pitt-Hopkins syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.