Variant (rsID / SNP)

rs201422368

rs201422368 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DRAM2. Location: chromosome 1, position 111,663,161. Clinical significance in the table: Pathogenic.

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Reference-table entries

DRAM2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:111663161
Cytoband: 1p13.3
HGVS: NM_001349884.2(DRAM2):c.494G>A (p.Trp165Ter)
Allele change: Nonsense_W35X

Associated conditions / phenotypes

Retinal dystrophy|Cone-rod dystrophy 21

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.