Variant (rsID / SNP)

rs28945071

rs28945071 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MASP1. Location: chromosome 3, position 186,974,465. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MASP1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:186974465
Cytoband: 3q27.3
HGVS: NM_139125.4(MASP1):c.731A>G (p.Tyr244Cys)
Allele change: Missense_Y244C

Associated conditions / phenotypes

3MC syndrome 1

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.