Variant (rsID / SNP)

rs138878772

rs138878772 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NRG3. Location: chromosome 10, position 84,745,221. Clinical significance in the table: Benign.

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Reference-table entries

NRG3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:84745221
Cytoband: 10q23.1
HGVS: NM_001010848.4(NRG3):c.1951G>A (p.Glu651Lys)
Allele change: Missense_E650K

Associated conditions / phenotypes

Aganglionic megacolon

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.