Variant (rsID / SNP)

rs144594695

rs144594695 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EMD. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

EMDBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_000117.3(EMD):c.466G>A (p.Gly156Ser)
Allele change: Missense_G156S

Associated conditions / phenotypes

X-linked Emery-Dreifuss muscular dystrophy|Emery-Dreifuss muscular dystrophy

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.