Variant (rsID / SNP)

rs139105452

rs139105452 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMPRSS6. Location: chromosome 22, position 37,462,173. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TMPRSS6Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 22:37462173
Cytoband: 22q12.3
HGVS: NM_001374504.1(TMPRSS6):c.2356G>A (p.Val786Ile)
Allele change: Missense_V808I

Associated conditions / phenotypes

Microcytic anemia

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.