Variant (rsID / SNP)

rs142755965

rs142755965 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNTN1. Location: chromosome 12, position 41,316,108. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CNTN1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 12:41316108
Cytoband: 12q12
HGVS: NM_001843.4(CNTN1):c.278T>C (p.Met93Thr)
Allele change: Missense_M93T

Associated conditions / phenotypes

Compton-North congenital myopathy

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.