Variant (rsID / SNP)

rs74641138

rs74641138 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MIP. Location: chromosome 12, position 56,848,079. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MIPBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:56848079
Cytoband: 12q13.3
HGVS: NM_012064.4(MIP):c.319G>A (p.Val107Ile)
Allele change: Missense_V107I

Associated conditions / phenotypes

Cataract 15 multiple types

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.