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Variant (rsID / SNP)

rs11805972

LAD1

rs11805972 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAD1. Location: chromosome 1, position 201,355,653. The table records no clinical significance for this variant.

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Reference-table entries

LAD1Not classified
Variant type
missense_variant
Chromosome / position
1:201355653
HGVS
NM_005558.4,c.836C>A,p.Pro279Gln
Allele change
Missense_P279Q

Associated conditions / phenotypes

Retinitis Pigmentosa 11

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.