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Variant (rsID / SNP)

rs76397662

RET

rs76397662 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,597,793. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RETBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
10:43597793
Cytoband
10q11.21
HGVS
NM_020975.6(RET):c.341G>A (p.Arg114His)
Allele change
Missense_R114H

Associated conditions / phenotypes

Congenital central hypoventilation|Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia, type 2|Hirschsprung disease, susceptibility to, 1|Multiple endocrine neoplasia, type 2b|Multiple endocrine neoplasia|Renal hypodysplasia/aplasia 1|Pheochromocytoma

Public references

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