Variant (rsID / SNP)

rs976529

rs976529 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDCCAG8. Location: chromosome 1, position 243,471,462. Clinical significance in the table: Benign.

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Reference-table entries

SDCCAG8Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:243471462
Cytoband: 1q43
HGVS: NM_006642.5(SDCCAG8):c.912C>T (p.Thr304=)
Allele change: Synonymous_T3T

Associated conditions / phenotypes

Senior-Loken syndrome 7|Bardet-Biedl syndrome 16|Bardet-Biedl syndrome 16|Senior-Loken syndrome 7|Senior-Loken syndrome 7

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.