Variant (rsID / SNP)

rs1050565

rs1050565 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BLMH. Location: chromosome 17, position 28,576,076. Clinical significance in the table: Benign.

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Reference-table entries

BLMHBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:28576076
Cytoband: 17q11.2
HGVS: NM_000386.4(BLMH):c.1327A>G (p.Ile443Val)
Allele change: Missense_I443V

Associated conditions / phenotypes

BLEOMYCIN HYDROLASE POLYMORPHISM

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.