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Variant (rsID / SNP)

rs150902999

C1QTNF5MFRP

rs150902999 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C1QTNF5, MFRP. Location: chromosome 11, position 119,216,142. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

C1QTNF5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:119216142
Cytoband
11q23.3
HGVS
NM_031433.4(MFRP):c.629G>T (p.Gly210Val)
Allele change
Missense_G210V

Associated conditions / phenotypes

Retinal degeneration|Isolated microphthalmia 5

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.