Variant (rsID / SNP)

rs552325363

rs552325363 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CUL7. Location: chromosome 6, position 43,017,380. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CUL7Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 6:43017380
Cytoband: 6p21.1
HGVS: NM_014780.5(CUL7):c.1590A>C (p.Leu530=)
Allele change: Synonymous_L530L

Associated conditions / phenotypes

3M syndrome 1

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.