Variant (rsID / SNP)

rs74315453

rs74315453 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to A4GALT. Location: chromosome 22, position 43,089,410. Clinical significance in the table: Affects.

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Reference-table entries

A4GALTOther

Clinical significance (as recorded): Affects
Variant type: single nucleotide variant
Chromosome / position: 22:43089410
Cytoband: 22q13.2
HGVS: NM_017436.7(A4GALT):c.548T>A (p.Met183Lys)
Allele change: Missense_M183K

Associated conditions / phenotypes

p phenotype

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.