Variant (rsID / SNP)

rs148194457

rs148194457 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CC2D2A. Location: chromosome 4, position 15,565,120. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CC2D2AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:15565120
Cytoband: 4p15.32
HGVS: NM_001378615.1(CC2D2A):c.3157A>G (p.Ile1053Val)
Allele change: Missense_I1053V

Associated conditions / phenotypes

Joubert syndrome|Meckel-Gruber syndrome

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.