Variant (rsID / SNP)

rs566655

rs566655 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA1. Location: chromosome 18, position 7,034,508. Clinical significance in the table: Benign.

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Reference-table entries

LAMA1Benign

Clinical significance (as recorded): Benign
Variant type: missense_variant
Chromosome / position: 18:7034508
HGVS: NM_005559.4,c.2021A>C,p.Asn674Thr
Allele change: Missense_N674T

Associated conditions / phenotypes

Poretti-Boltshauser Syndrome|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.