Variant (rsID / SNP)

rs118204052

rs118204052 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CC2D2A. Location: chromosome 4, position 15,601,237. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CC2D2APathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:15601237
Cytoband: 4p15.32
HGVS: NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys)
Allele change: Missense_R1528C

Associated conditions / phenotypes

Joubert syndrome 9|COACH syndrome 2

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.