Variant (rsID / SNP)

rs118204053

rs118204053 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CC2D2A. Location: chromosome 4, position 15,560,806. Clinical significance in the table: Pathogenic.

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Reference-table entries

CC2D2APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:15560806
Cytoband: 4p15.32
HGVS: NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter)
Allele change: Nonsense_R950X

Associated conditions / phenotypes

Joubert syndrome 9|Inborn genetic diseases

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.