Variant (rsID / SNP)

rs121909124

rs121909124 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GUCA1B. Location: chromosome 6, position 42,153,424. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GUCA1BUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:42153424
Cytoband: 6p21.1
HGVS: NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg)
Allele change: Missense_G157R

Associated conditions / phenotypes

Retinitis pigmentosa 48|Retinitis pigmentosa

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.