Variant (rsID / SNP)

rs121912550

rs121912550 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IMPDH1. Location: chromosome 7, position 128,038,611. Clinical significance in the table: Pathogenic.

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Reference-table entries

IMPDH1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:128038611
Cytoband: 7q32.1
HGVS: NM_000883.4(IMPDH1):c.931G>A (p.Asp311Asn)
Allele change: Missense_D226N

Associated conditions / phenotypes

Retinitis pigmentosa 10

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.