Variant (rsID / SNP)

rs33997857

rs33997857 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LPIN1. Location: chromosome 2, position 11,927,238. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LPIN1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:11927238
Cytoband: 2p25.1
HGVS: NM_001349206.2(LPIN1):c.1588G>A (p.Val530Met)
Allele change: Missense_V579M

Associated conditions / phenotypes

Myoglobinuria, acute recurrent, autosomal recessive

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.