Variant (rsID / SNP)

rs144291418

rs144291418 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBX15. Location: chromosome 1, position 119,427,839. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TBX15Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:119427839
Cytoband: 1p12
HGVS: NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys)
Allele change: Missense_R442K

Associated conditions / phenotypes

Pelviscapular dysplasia

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.