Variant (rsID / SNP)

rs121917837

rs121917837 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEUROG3. Location: chromosome 10, position 71,332,481. Clinical significance in the table: Pathogenic.

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Reference-table entries

NEUROG3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:71332481
Cytoband: 10q22.1
HGVS: NM_020999.4(NEUROG3):c.319C>A (p.Arg107Ser)
Allele change: Missense_R107S

Associated conditions / phenotypes

Congenital malabsorptive diarrhea 4

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.