Variant (rsID / SNP)

rs78640841

rs78640841 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBX4. Location: chromosome 17, position 59,556,060. Clinical significance in the table: Benign.

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Reference-table entries

TBX4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:59556060
Cytoband: 17q23.2
HGVS: NM_001321120.2(TBX4):c.622G>A (p.Gly208Ser)
Allele change: Missense_G208S

Associated conditions / phenotypes

Coxopodopatellar 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.