Variant (rsID / SNP)

rs181298473

rs181298473 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RIN2. Location: chromosome 20, position 19,956,311. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RIN2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:19956311
Cytoband: 20p11.23
HGVS: NM_018993.4(RIN2):c.1642G>A (p.Val548Met)
Allele change: Missense_V597M

Associated conditions / phenotypes

RIN2 syndrome

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.