Variant (rsID / SNP)

rs75713718

rs75713718 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMOD3. Location: chromosome 3, position 69,168,249. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

LMOD3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:69168249
Cytoband: 3p14.1
HGVS: NM_198271.5(LMOD3):c.1257G>C (p.Met419Ile)
Allele change: Missense_M419I

Associated conditions / phenotypes

Nemaline myopathy 10

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.