Variant (rsID / SNP)

rs200177134

rs200177134 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA4. Location: chromosome 6, position 112,435,335. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LAMA4Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 6:112435335
Cytoband: 6q21
HGVS: NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu)
Allele change: Missense_P1757L

Associated conditions / phenotypes

Dilated cardiomyopathy 1JJ

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.