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Variant (rsID / SNP)

rs192489011

RET

rs192489011 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,596,033. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RETConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:43596033
Cytoband
10q11.21
HGVS
NM_020975.6(RET):c.200G>A (p.Arg67His)
Allele change
Missense_R67H

Associated conditions / phenotypes

Hirschsprung disease, susceptibility to, 1|Multiple endocrine neoplasia|Renal hypodysplasia/aplasia 1|Pheochromocytoma|Hereditary cancer-predisposing syndrome|B-lymphoblastic leukemia/lymphoma with hypodiploidy|Multiple endocrine neoplasia, type 2

Public references

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