Variant (rsID / SNP)

rs58894089

rs58894089 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GUCA1A, LOC118142757, GUCA1ANB. Location: chromosome 6, position 42,130,650. Clinical significance in the table: Benign.

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Reference-table entries

GUCA1ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:42130650
Cytoband: 6p21.1
HGVS: NM_001384994.1(GUCA1ANB):c.10-8C>T
Allele change: Silent

Associated conditions / phenotypes

Cone dystrophy 3

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.