Variant (rsID / SNP)
rs144738522
rs144738522 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA1. Location: chromosome 18, position 7,023,207. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
LAMA1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:7023207
- Cytoband
- 18p11.31
- HGVS
- NM_005559.4(LAMA1):c.2657C>T (p.Ala886Val)
- Allele change
- Missense_A886V
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
