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Variant (rsID / SNP)

rs118064970

SDCCAG8

rs118064970 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDCCAG8. Location: chromosome 1, position 243,507,569. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SDCCAG8Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:243507569
Cytoband
1q43
HGVS
NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly)
Allele change
Missense_E169G

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.