Variant (rsID / SNP)

rs115169621

rs115169621 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HMCN1. Location: chromosome 1, position 185,704,025. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

HMCN1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:185704025
Cytoband: 1q25.3
HGVS: NM_031935.3(HMCN1):c.114G>T (p.Gly38=)
Allele change: Synonymous_G38G

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.