Variant (rsID / SNP)

rs144648002

rs144648002 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RFX6. Location: chromosome 6, position 117,248,480. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RFX6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:117248480
Cytoband: 6q22.1
HGVS: NM_173560.4(RFX6):c.2176C>T (p.Arg726Ter)
Allele change: Missense_R726G

Associated conditions / phenotypes

Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder 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.