Variant (rsID / SNP)

rs1050145

rs1050145 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPGD. Location: chromosome 4, position 175,443,156. Clinical significance in the table: Benign.

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Reference-table entries

HPGDBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:175443156
Cytoband: 4q34.1
HGVS: NM_000860.6(HPGD):c.156G>A (p.Gln52=)
Allele change: Synonymous_Q52Q

Associated conditions / phenotypes

Hypertrophic osteoarthropathy, primary, autosomal recessive, 1|Isolated congenital digital clubbing

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.