Variant (rsID / SNP)

rs199809221

rs199809221 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMAA. Location: chromosome 4, position 146,563,569. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MMAAUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:146563569
Cytoband: 4q31.21
HGVS: NM_172250.3(MMAA):c.494A>G (p.Lys165Arg)
Allele change: Missense_K165R

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.