Variant (rsID / SNP)

rs567083

rs567083 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAK. Location: chromosome 6, position 10,775,600. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MAKBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:10775600
Cytoband: 6p24.2
HGVS: NM_001242957.3(MAK):c.1558C>T (p.Pro520Ser)
Allele change: Missense_P520S

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.