{{Rsnum
|rsid=560096
|Gene=IGHMBP2
|Chromosome=11
|position=68911494
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.2975
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=IGHMBP2
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 78.8 | 18.6 | 2.7
| HCB | 29.9 | 47.4 | 22.6
| JPT | 24.8 | 57.5 | 17.7
| YRI | 42.2 | 44.2 | 13.6
| ASW | 36.8 | 42.1 | 21.1
| CHB | 29.9 | 47.4 | 22.6
| CHD | 22.9 | 49.5 | 27.5
| GIH | 61.4 | 29.7 | 8.9
| LWK | 36.4 | 48.2 | 15.5
| MEX | 67.2 | 25.9 | 6.9
| MKK | 30.8 | 45.5 | 23.7
| TSI | 69.6 | 26.5 | 3.9
| HapMapRevision=28
}}{{Venter SNP
|rsid=560096
|allele=C
|frequency=0.883
|uid=1103649714946
|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=Leu201Ser
|aa_change_short=L201S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs560096
|overall_frequency_n=8355
|overall_frequency_d=10758
|overall_frequency=0.776631
|n_genomes=50
|n_genomes_annotated=0
|n_haplomes=82
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=6
|autoscore=2
|n_web_uneval=1
}}

{{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}}