Variant (rsID / SNP)

rs61740537

rs61740537 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CC2D2A. Location: chromosome 4, position 15,559,114. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CC2D2AConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 4:15559114
Cytoband: 4p15.32
HGVS: NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr)
Allele change: Missense_M938T

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.