Variant (rsID / SNP)

rs142136104

rs142136104 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC78. Location: chromosome 16, position 774,734. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CCDC78Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:774734
Cytoband: 16p13.3
HGVS: NM_001378030.1(CCDC78):c.712A>C (p.Lys238Gln)
Allele change: Missense_K238Q

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.