Variant (rsID / SNP)

rs370307666

rs370307666 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBX3. Location: chromosome 12, position 115,109,844. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TBX3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 12:115109844
Cytoband: 12q24.21
HGVS: NM_005996.4(TBX3):c.1974C>T (p.Ala658=)
Allele change: Synonymous_A658A

Associated conditions / phenotypes

Ulnar-mammary syndrome

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.