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Variant (rsID / SNP)

rs146843542

CC2D2A

rs146843542 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CC2D2A. Location: chromosome 4, position 15,591,226. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CC2D2AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:15591226
Cytoband
4p15.32
HGVS
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr)
Allele change
Missense_C1413Y

Associated conditions / phenotypes

Joubert syndrome 9|Meckel syndrome, type 6|Joubert syndrome|Meckel-Gruber syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.