Variant (rsID / SNP)

rs150313549

rs150313549 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH9. Location: chromosome 22, position 36,745,049. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MYH9Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 22:36745049
Cytoband: 22q12.3
HGVS: NM_002473.6(MYH9):c.233C>T (p.Pro78Leu)
Allele change: Missense_P78L

Associated conditions / phenotypes

Nonsyndromic Hearing Loss, Dominant|MYH9-related disorder

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.