Variant (rsID / SNP)

rs2510143

rs2510143 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFRP, C1QTNF5. Location: chromosome 11, position 119,216,231. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MFRPBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:119216231
Cytoband: 11q23.3
HGVS: NM_031433.4(MFRP):c.540T>C (p.His180_Ala181=)
Allele change: Synonymous_H180H

Associated conditions / phenotypes

Retinal degeneration|Isolated microphthalmia 6|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.