Variant (rsID / SNP)

rs147056081

rs147056081 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CUL7. Location: chromosome 6, position 43,008,415. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CUL7Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:43008415
Cytoband: 6p21.1
HGVS: NM_014780.5(CUL7):c.3876C>T (p.Ile1292=)
Allele change: Synonymous_I1292I

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.