Variant (rsID / SNP)

rs75852090

rs75852090 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRMDA. Location: chromosome 10, position 78,316,976. Clinical significance in the table: Benign.

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Reference-table entries

LRMDABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:78316976
Cytoband: 10q22.3
HGVS: NM_001305581.2(LRMDA):c.611G>A (p.Gly204Glu)
Allele change: Missense_G204E

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.