Variant (rsID / SNP)

rs140761899

rs140761899 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC78, HAGHL. Location: chromosome 16, position 775,878. Clinical significance in the table: Likely benign.

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Reference-table entries

CCDC78Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:775878
Cytoband: 16p13.3
HGVS: NM_001378030.1(CCDC78):c.183C>G (p.Ile61Met)
Allele change: Missense_I61M

Associated conditions / phenotypes

Congenital myopathy with internal nuclei and atypical cores

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.