Variant (rsID / SNP)

rs1997980

rs1997980 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GUCA1A, GUCA1B. Location: chromosome 6, position 42,151,235. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GUCA1ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:42151235
Cytoband: 6p21.1
HGVS: NM_002098.6(GUCA1B):c.*1318G>A
Allele change: Silent

Associated conditions / phenotypes

Cone dystrophy|Retinitis Pigmentosa, Dominant|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.