Variant (rsID / SNP)

rs368720062

rs368720062 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CC2D2A. Location: chromosome 4, position 15,597,777. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CC2D2ALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:15597777
Cytoband: 4p15.32
HGVS: NM_001378615.1(CC2D2A):c.4384T>C (p.Trp1462Arg)
Allele change: Missense_W1462R

Associated conditions / phenotypes

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.