{{Rsnum
|rsid=622082
|Gene=IGHMBP2
|Chromosome=11
|position=68936491
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.2222
|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 | 51.8 | 45.5 | 2.7
| HCB | 67.2 | 27.0 | 5.8
| JPT | 60.4 | 31.5 | 8.1
| YRI | 80.1 | 19.9 | 0.0
| ASW | 82.5 | 15.8 | 1.8
| CHB | 67.2 | 27.0 | 5.8
| CHD | 68.6 | 29.5 | 1.9
| GIH | 22.8 | 53.5 | 23.8
| LWK | 79.1 | 17.3 | 3.6
| MEX | 69.0 | 29.3 | 1.7
| MKK | 77.4 | 21.3 | 1.3
| TSI | 50.0 | 38.2 | 11.8
| HapMapRevision=28
}}{{Venter SNP
|rsid=622082
|allele=G
|frequency=0.283
|uid=1103649715008
|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.
}}

{{PMID Auto
|PMID=16111488
|Title=Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.
|OA=1
}}

{{GET Evidence
|gene=IGHMBP2
|aa_change=Thr671Ala
|aa_change_short=T671A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs622082
|overall_frequency_n=2647
|overall_frequency_d=10754
|overall_frequency=0.246141
|n_genomes=14
|n_genomes_annotated=0
|n_haplomes=16
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=1
|autoscore=2
|n_web_uneval=4
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}