Variant (rsID / SNP)

rs199422117

rs199422117 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBXAS1. Location: chromosome 7, position 139,715,531. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TBXAS1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:139715531
Cytoband: 7q34
HGVS: NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln)
Allele change: Missense_R345Q

Associated conditions / phenotypes

Ghosal hematodiaphyseal syndrome|Ghosal hematodiaphyseal 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.