Variant (rsID / SNP)
rs12882191
rs12882191 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NIN. Location: chromosome 14, position 51,224,374. Clinical significance in the table: Benign.
Reference-table entries
NINBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:51224374
- Cytoband
- 14q22.1
- HGVS
- NM_020921.4(NIN):c.3374A>C (p.Gln1125Pro)
- Allele change
- Missense_Q1125P
Associated conditions / phenotypes
Seckel syndrome 7
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.