{{Rsnum
|rsid=10896380
|Gene=IGHMBP2
|Chromosome=11
|position=68914934
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.157
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=IGHMBP2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 48.7 | 43.4 | 8.0
| HCB | 95.6 | 3.6 | 0.7
| JPT | 96.5 | 3.5 | 0.0
| YRI | 83.7 | 15.0 | 1.4
| ASW | 77.2 | 22.8 | 0.0
| CHB | 95.6 | 3.6 | 0.7
| CHD | 95.4 | 4.6 | 0.0
| GIH | 94.1 | 5.9 | 0.0
| LWK | 67.9 | 30.3 | 1.8
| MEX | 66.7 | 31.6 | 1.8
| MKK | 56.8 | 38.7 | 4.5
| TSI | 55.9 | 38.2 | 5.9
| HapMapRevision=28
}}{{Venter SNP
|rsid=10896380
|allele=G
|frequency=0.237
|uid=1103649714958
|type=homozygous_SNP
|hugo=IGHMBP2
|ensembl gene=ENSG00000132740
|ensembl transcript=ENST00000255078
|sift=TOLERATED
|disease=Defects in IGHMBP2 are the cause of spinal muscle atrophy with respiratory distress type 1 (SMARD1) (MIM:604320). Intrauterine growth retardation, weak cry, and foot deformities are the earliest symptoms of SMARD1. Most patients manifest characteristic clinical features that include early-onset respiratory failure due to diaphragmatic paralysis and severe distal muscle weakness.
}}

{{GET Evidence
|gene=IGHMBP2
|aa_change=Ile275Val
|aa_change_short=I275V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs10896380
|overall_frequency_n=2204
|overall_frequency_d=10758
|overall_frequency=0.204871
|n_genomes=15
|n_genomes_annotated=0
|n_haplomes=19
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=-4
|autoscore=2
|n_web_uneval=2
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}