{{Rsnum
|rsid=33926449
|Gene=LMAN1
|Chromosome=18
|position=59359129
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.07576
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=LMAN1
}}{{Venter SNP
|rsid=33926449
|allele=G
|frequency=
|uid=1103645212238
|type=heterozygous_SNP
|hugo=LMAN1
|ensembl gene=ENSG00000074695
|ensembl transcript=ENST00000251047
|sift=TOLERATED
|disease=Defects in LMAN1 are a cause of factor V and factor VIII combined deficiency (F5F8D) (MIM:227300); also known as multiple coagulation factor deficiency I (MCFD1). F5F8D is an autosomal recessive bleeding disorder characterized by coordinate reduction of both clotting proteins. Affected patients present with a moderate bleeding tendency and have factor V and factor VIII levels in the range of 5-30% of normal.
}}

{{GET Evidence
|gene=LMAN1
|aa_change=Val39Ala
|aa_change_short=V39A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs33926449
|overall_frequency_n=1094
|overall_frequency_d=10754
|overall_frequency=0.10173
|n_genomes=4
|n_genomes_annotated=0
|n_haplomes=4
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=2
|autoscore=2
|n_web_uneval=1
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}