Variant (rsID / SNP)

rs200394928

rs200394928 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GUCA1B. Location: chromosome 6, position 42,162,372. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GUCA1BUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:42162372
Cytoband: 6p21.1
HGVS: NM_002098.6(GUCA1B):c.187C>T (p.Arg63Ter)
Allele change: Nonsense_R63X

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.