Variant (rsID / SNP)

rs139004902

rs139004902 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUN2. Location: chromosome 22, position 39,137,513. Clinical significance in the table: Benign.

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Reference-table entries

SUN2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:39137513
Cytoband: 22q13.1
HGVS: NM_015374.3(SUN2):c.1132G>A (p.Val378Ile)
Allele change: Missense_V399I

Associated conditions / phenotypes

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.