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Variant (rsID / SNP)

rs76290319

SMCHD1

rs76290319 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMCHD1. Location: chromosome 18, position 2,739,448. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SMCHD1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:2739448
Cytoband
18p11.32
HGVS
NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=)
Allele change
Synonymous_P1148P

Associated conditions / phenotypes

Facioscapulohumeral muscular dystrophy 2

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.