Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs79544660

MAK

rs79544660 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAK. Location: chromosome 6, position 10,770,421. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

MAKConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:10770421
Cytoband
6p24.2
HGVS
NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr)
Allele change
Missense_I547T

Associated conditions / phenotypes

Retinitis Pigmentosa, Recessive|Retinitis pigmentosa 62

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.