Variant (rsID / SNP)

rs12239296

rs12239296 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HMCN1. Location: chromosome 1, position 185,963,991. Clinical significance in the table: Benign.

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Reference-table entries

HMCN1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:185963991
Cytoband: 1q31.1
HGVS: NM_031935.3(HMCN1):c.3550G>T (p.Val1184Phe)
Allele change: Missense_V1184F

Associated conditions / phenotypes

Age related macular degeneration 1

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.