Variant (rsID / SNP)

rs141420691

rs141420691 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CUBN. Location: chromosome 10, position 17,126,433. Clinical significance in the table: Likely benign.

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Reference-table entries

CUBNLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:17126433
Cytoband: 10p13
HGVS: NM_001081.4(CUBN):c.2138C>T (p.Thr713Met)
Allele change: Missense_T713M

Associated conditions / phenotypes

Imerslund-Grasbeck syndrome type 1|Imerslund-Grasbeck 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.