Variant (rsID / SNP)

rs104893967

rs104893967 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GUCA1A, LOC118142757. Location: chromosome 6, position 42,146,112. Clinical significance in the table: Pathogenic.

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Reference-table entries

GUCA1APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:42146112
Cytoband: 6p21.1
HGVS: NM_001384910.1(GUCA1A):c.296A>G (p.Tyr99Cys)
Allele change: Missense_Y99C

Associated conditions / phenotypes

Cone dystrophy 3|Retinitis pigmentosa|Macular dystrophy|Retinal dystrophy

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.