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Variant (rsID / SNP)

rs140955110

LAMC3

rs140955110 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMC3. Location: chromosome 9, position 133,948,184. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LAMC3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:133948184
Cytoband
9q34.12
HGVS
NM_006059.4(LAMC3):c.3379G>A (p.Glu1127Lys)
Allele change
Missense_E1127K

Associated conditions / phenotypes

Occipital pachygyria and polymicrogyria

Public references

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