Variant (rsID / SNP)

rs41294530

rs41294530 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCP2. Location: chromosome 1, position 53,442,376. Clinical significance in the table: Benign.

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Reference-table entries

SCP2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:53442376
Cytoband: 1p32.3
HGVS: NM_002979.5(SCP2):c.609A>G (p.Glu203=)
Allele change: Synonymous_E203E

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.