Variant (rsID / SNP)

rs183865568

rs183865568 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CUL7. Location: chromosome 6, position 43,019,994. 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: 6:43019994
Cytoband: 6p21.1
HGVS: NM_014780.5(CUL7):c.533G>T (p.Arg178Leu)
Allele change: Missense_R178L

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.