Variant (rsID / SNP)
rs148954387
rs148954387 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPINK1. Location: chromosome 5, position 147,207,583. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SPINK1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:147207583
- Cytoband
- 5q32
- HGVS
- NM_001379610.1(SPINK1):c.194+2T>C
- Allele change
- Silent
Associated conditions / phenotypes
Hereditary pancreatitis|Chronic pancreatitis|Hereditary pancreatitis|Tropical pancreatitis|Inborn genetic diseases|Diabetes mellitus
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.