Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs151311806

SMCHD1

rs151311806 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMCHD1. Location: chromosome 18, position 2,772,321. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SMCHD1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:2772321
Cytoband
18p11.32
HGVS
NM_015295.3(SMCHD1):c.5126C>T (p.Ser1709Leu)
Allele change
Missense_S1709L

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.