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Variant (rsID / SNP)

rs149926238

RET

rs149926238 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,601,913. 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
10:43601913
Cytoband
10q11.21
HGVS
NM_020975.6(RET):c.957C>A (p.Leu319_Pro320=)
Allele change
Synonymous_L319L

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia|Pheochromocytoma|Renal hypodysplasia/aplasia 1|Hirschsprung disease, susceptibility to, 1|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.