Variant (rsID / SNP)

rs1999240

rs1999240 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO3A. Location: chromosome 10, position 26,463,130. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MYO3ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:26463130
Cytoband: 10p12.1
HGVS: NM_017433.5(MYO3A):c.3937C>A (p.Arg1313Ser)
Allele change: Missense_R1313S

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 30

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.