Variant (rsID / SNP)

rs185334169

rs185334169 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMBRD1. Location: chromosome 6, position 70,409,081. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LMBRD1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:70409081
Cytoband: 6q13
HGVS: NM_018368.4(LMBRD1):c.1192T>C (p.Tyr398His)
Allele change: Missense_Y398H

Associated conditions / phenotypes

Methylmalonic aciduria and homocystinuria type cblF

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.