Variant (rsID / SNP)

rs146067716

rs146067716 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC78, ANTKMT. Location: chromosome 16, position 772,978. 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: 16:772978
Cytoband: 16p13.3
HGVS: NM_001378030.1(CCDC78):c.1245G>A (p.Thr415=)
Allele change: Missense_R414Q

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.