Variant (rsID / SNP)

rs121918229

rs121918229 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CUL7. Location: chromosome 6, position 43,006,629. Clinical significance in the table: Pathogenic.

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Reference-table entries

CUL7Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:43006629
Cytoband: 6p21.1
HGVS: NM_014780.5(CUL7):c.4391A>C (p.His1464Pro)
Allele change: Missense_H1464P

Associated conditions / phenotypes

3M syndrome 1|3-M 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.