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Variant (rsID / SNP)

rs118204051

CC2D2A

rs118204051 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CC2D2A. Location: chromosome 4, position 15,569,375. 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
4:15569375
Cytoband
4p15.32
HGVS
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
Allele change
Missense_P1122S

Associated conditions / phenotypes

Joubert syndrome 9|COACH syndrome 1|Meckel-Gruber syndrome|Joubert syndrome

Public references

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