Variant (rsID / SNP)

rs121908189

rs121908189 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFRP. Location: chromosome 11, position 119,216,248. Clinical significance in the table: Pathogenic.

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Reference-table entries

MFRPPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:119216248
Cytoband: 11q23.3
HGVS: NM_031433.4(MFRP):c.523C>T (p.Gln175Ter)
Allele change: Nonsense_Q175X

Associated conditions / phenotypes

Nanophthalmos 2|Isolated microphthalmia 5

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.