Variant (rsID / SNP)

rs140005285

rs140005285 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBXAS1. Location: chromosome 7, position 139,611,032. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TBXAS1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:139611032
Cytoband: 7q34
HGVS: NM_001061.7(TBXAS1):c.245T>C (p.Leu82Pro)
Allele change: Missense_L15P

Associated conditions / phenotypes

Ghosal hematodiaphyseal 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.