Variant (rsID / SNP)

rs200641218

rs200641218 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAK. Location: chromosome 6, position 10,796,406. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MAKUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:10796406
Cytoband: 6p24.2
HGVS: NM_001242957.3(MAK):c.968C>G (p.Pro323Arg)
Allele change: Missense_P323R

Associated conditions / phenotypes

Retinitis Pigmentosa, Recessive

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.