Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs8192556

NEUROD1

rs8192556 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEUROD1. Location: chromosome 2, position 182,542,998. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

NEUROD1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:182542998
Cytoband
2q31.3
HGVS
NM_002500.5(NEUROD1):c.590C>A (p.Pro197His)
Allele change
Silent

Associated conditions / phenotypes

Maturity-onset diabetes of the young type 6|Monogenic diabetes|Hypoinsulinemia

Public references

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