Variant (rsID / SNP)

rs145387235

rs145387235 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMOD3. Location: chromosome 3, position 69,167,851. Clinical significance in the table: Benign.

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Reference-table entries

LMOD3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:69167851
Cytoband: 3p14.1
HGVS: NM_198271.5(LMOD3):c.1655C>A (p.Pro552His)
Allele change: Missense_P552H

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.