Variant (rsID / SNP)

rs143642515

rs143642515 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMBRD1. Location: chromosome 6, position 70,462,172. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LMBRD1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 6:70462172
Cytoband: 6q13
HGVS: NM_018368.4(LMBRD1):c.384T>C (p.Asp128=)
Allele change: Synonymous_D128D

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.