Variant (rsID / SNP)

rs41263993

rs41263993 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC28B, IQCC. Location: chromosome 1, position 32,669,645. Clinical significance in the table: Uncertain significance; risk factor.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CCDC28BUncertain significance

Clinical significance (as recorded): Uncertain significance; risk factor
Variant type: single nucleotide variant
Chromosome / position: 1:32669645
Cytoband: 1p35.2
HGVS: NM_024296.5(CCDC28B):c.330C>T (p.Phe110=)
Allele change: Synonymous_F110F

Associated conditions / phenotypes

Bardet-Biedl syndrome 1, modifier of|Bardet-Biedl 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.