Variant (rsID / SNP)

rs145398864

rs145398864 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HMCN1. Location: chromosome 1, position 186,107,048. Clinical significance in the table: Uncertain significance.

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Reference-table entries

HMCN1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:186107048
Cytoband: 1q31.1
HGVS: NM_031935.3(HMCN1):c.13868G>A (p.Arg4623Gln)
Allele change: Missense_R4623Q

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.