Variant (rsID / SNP)

rs607230

rs607230 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA1. Location: chromosome 18, position 6,980,523. The table records no clinical significance for this variant.

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Reference-table entries

LAMA1Not classified

Variant type: missense_variant
Chromosome / position: 18:6980523
HGVS: NM_005559.4,c.6004A>G,p.Lys2002Glu
Allele change: Missense_K2002E

Associated conditions / phenotypes

Myopia|Myopia 2, Autosomal Dominant

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.