Variant (rsID / SNP)
rs78115331
rs78115331 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBX3. Location: chromosome 12, position 115,112,554. Clinical significance in the table: Benign.
Reference-table entries
TBX3Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:115112554
- Cytoband
- 12q24.21
- HGVS
- NM_005996.4(TBX3):c.1126T>A (p.Ser376Thr)
- Allele change
- Missense_S376T
Associated conditions / phenotypes
Ulnar-mammary syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.