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Variant (rsID / SNP)

rs1063385

AIP

rs1063385 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AIP. Location: chromosome 11, position 67,254,522. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AIPConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:67254522
Cytoband
11q13.2
HGVS
NM_003977.4(AIP):c.145G>A (p.Val49Met)
Allele change
Missense_V49M

Associated conditions / phenotypes

Somatotroph adenoma|Hereditary cancer-predisposing syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.