Variant (rsID / SNP)

rs386833755

rs386833755 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CC2D2A. Location: chromosome 4, position 15,572,069. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CC2D2ALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:15572069
Cytoband: 4p15.32
HGVS: NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg)
Allele change: Missense_W1182R

Associated conditions / phenotypes

Meckel syndrome, type 6|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.