Variant (rsID / SNP)
rs28939720
rs28939720 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRB1. Location: chromosome 1, position 197,396,689. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
CRB1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:197396689
- Cytoband
- 1q31.3
- HGVS
- NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)
- Allele change
- Missense_T676M
Associated conditions / phenotypes
Retinitis pigmentosa 12|Retinitis pigmentosa|Leber congenital amaurosis 8|Retinitis pigmentosa 12|Retinal dystrophy|Autosomal recessive retinitis pigmentosa|Leber congenital amaurosis 8|Pigmented paravenous retinochoroidal atrophy|Leber congenital amaurosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.