Variant (rsID / SNP)

rs200645738

rs200645738 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CC2D2A. Location: chromosome 4, position 15,601,208. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CC2D2AConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 4:15601208
Cytoband: 4p15.32
HGVS: NM_001378615.1(CC2D2A):c.4553G>A (p.Arg1518Gln)
Allele change: Missense_R1518Q

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.