Variant (rsID / SNP)

rs10755037

rs10755037 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPEG. Location: chromosome 2, position 220,348,751. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SPEGBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:220348751
Cytoband: 2q35
HGVS: NM_005876.5(SPEG):c.6566C>T (p.Pro2189Leu)
Allele change: Missense_P2189L

Associated conditions / phenotypes

Myopathy, centronuclear, 5

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.