Variant (rsID / SNP)

rs375200566

rs375200566 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,868,347. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MYO7AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:76868347
Cytoband: 11q13.5
HGVS: NM_000260.4(MYO7A):c.758A>G (p.His253Arg)
Allele change: Missense_H253R

Associated conditions / phenotypes

Usher syndrome type 1B

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.