Variant (rsID / SNP)

rs149650795

rs149650795 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMBRD1. Location: chromosome 6, position 70,506,756. Clinical significance in the table: Benign.

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Reference-table entries

LMBRD1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:70506756
Cytoband: 6q13
HGVS: NM_018368.4(LMBRD1):c.18G>C (p.Ala6=)
Allele change: Synonymous_A6A

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.