Variant (rsID / SNP)

rs28941470

rs28941470 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MASTL. Location: chromosome 10, position 27,450,059. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MASTLUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:27450059
Cytoband: 10p12.1
HGVS: NM_001172303.3(MASTL):c.501G>C (p.Glu167Asp)
Allele change: Missense_E167D

Associated conditions / phenotypes

Thrombocytopenia 2

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.