Variant (rsID / SNP)

rs201580075

rs201580075 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDCCAG8. Location: chromosome 1, position 243,504,395. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SDCCAG8Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:243504395
Cytoband: 1q43
HGVS: NM_006642.5(SDCCAG8):c.1276A>G (p.Thr426Ala)
Allele change: Missense_T125A

Associated conditions / phenotypes

Bardet-Biedl syndrome 16|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.