Variant (rsID / SNP)

rs181787647

rs181787647 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA4. Location: chromosome 6, position 112,454,673. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LAMA4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:112454673
Cytoband: 6q21
HGVS: NM_001105206.3(LAMA4):c.3574C>T (p.Leu1192Phe)
Allele change: Missense_L1192F

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.