Variant (rsID / SNP)
rs12961939
rs12961939 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA1. Location: chromosome 18, position 6,997,818. Clinical significance in the table: Benign.
Reference-table entries
LAMA1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- missense_variant
- Chromosome / position
- 18:6997818
- HGVS
- NM_005559.4,c.4729T>G,p.Ser1577Ala
- Allele change
- Missense_S1577A
Associated conditions / phenotypes
Poretti-Boltshauser Syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.