Variant (rsID / SNP)

rs9680797

rs9680797 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCARF2. Location: chromosome 22, position 20,780,296. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SCARF2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 22:20780296
Cytoband: 22q11.21
HGVS: NM_182895.5(SCARF2):c.1967C>T (p.Pro656Leu)
Allele change: Missense_P661L

Associated conditions / phenotypes

Van den Ende-Gupta 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.