Variant (rsID / SNP)
rs2076584
rs2076584 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RIN2. Location: chromosome 20, position 19,970,705. Clinical significance in the table: Benign.
Reference-table entries
RIN2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:19970705
- Cytoband
- 20p11.23
- HGVS
- NM_018993.4(RIN2):c.1818C>T (p.His606=)
- Allele change
- Synonymous_H655H
Associated conditions / phenotypes
RIN2 syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.