Variant (rsID / SNP)

rs147695488

rs147695488 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA4. Location: chromosome 6, position 112,513,042. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LAMA4Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:112513042
Cytoband: 6q21
HGVS: NM_001105206.3(LAMA4):c.514G>A (p.Gly172Ser)
Allele change: Missense_G172S

Associated conditions / phenotypes

Cardiovascular phenotype|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.