Variant (rsID / SNP)

rs62000445

rs62000445 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAK. Location: chromosome 6, position 10,792,040. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MAKConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 6:10792040
Cytoband: 6p24.2
HGVS: NM_001242957.3(MAK):c.1184G>T (p.Arg395Leu)
Allele change: Missense_R395L

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.