Variant (rsID / SNP)

rs145139708

rs145139708 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH9. Location: chromosome 22, position 36,681,327. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MYH9Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 22:36681327
Cytoband: 22q12.3
HGVS: NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu)
Allele change: Missense_K1775E

Associated conditions / phenotypes

MYH9-related disorder|Autosomal dominant nonsyndromic hearing loss 17

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.