Variant (rsID / SNP)

rs2032567

rs2032567 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA4. Location: chromosome 6, position 112,457,390. Clinical significance in the table: Benign.

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Reference-table entries

LAMA4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:112457390
Cytoband: 6q21
HGVS: NM_001105206.3(LAMA4):c.3349G>A (p.Gly1117Ser)
Allele change: Missense_G1117S

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.