Variant (rsID / SNP)

rs137853340

rs137853340 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GCNT2. Location: chromosome 6, position 10,529,827. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GCNT2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:10529827
Cytoband: 6p24.3
HGVS: NM_145649.5(GCNT2):c.683G>A (p.Arg228Gln)
Allele change: Missense_R228Q

Associated conditions / phenotypes

ADULT i BLOOD GROUP PHENOTYPE

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.