{{Rsnum
|rsid=35332062
|Gene=MLXIPL
|Chromosome=7
|position=73597712
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.09642
|Gene_s=LOC100289339,MLXIPL
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{Venter SNP
|rsid=35332062
|allele=A
|frequency=
|uid=1103652612577
|type=heterozygous_SNP
|hugo=MLXIPL
|ensembl gene=ENSG00000009950
|ensembl transcript=ENST00000313375
|sift=
|disease=Haploinsufficiency of WBSCR14 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in Williams-Beuren syndrome (WBS) (MIM:194050). WBS is a rare developmental disorder. It is a contiguous gene deletion syndrome involving genes from chromosome band 7q11.23.
}}

{{GET Evidence
|gene=MLXIPL
|aa_change=Ala358Val
|aa_change_short=A358V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs35332062
|overall_frequency_n=702
|overall_frequency_d=8156
|overall_frequency=0.0860716
|n_genomes=9
|n_genomes_annotated=0
|n_haplomes=9
|n_articles=0
|n_articles_annotated=0
|pph2_score=0.345
|nblosum100=2
|autoscore=0
|webscore=N
}}

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