Variant (rsID / SNP)

rs1861050

rs1861050 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CC2D2A. Location: chromosome 4, position 15,482,360. Clinical significance in the table: Benign.

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Reference-table entries

CC2D2ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:15482360
Cytoband: 4p15.32
HGVS: NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=)
Allele change: Nonsense_R88X

Associated conditions / phenotypes

Joubert syndrome 9|Meckel syndrome, type 6|Joubert syndrome|Meckel-Gruber syndrome|Joubert syndrome 1

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.