Variant (rsID / SNP)

rs137924161

rs137924161 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA3. Location: chromosome 16, position 2,374,467. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ABCA3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:2374467
Cytoband: 16p13.3
HGVS: NM_001089.3(ABCA3):c.385G>A (p.Val129Met)
Allele change: Missense_V129M

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.