NM_003995.3(NPR2):c.1162C>T (p.Arg388Ter) AND Acromesomelic dysplasia Maroteaux type
| Significance: | Pathogenic |
|---|---|
| ClinVar: | RCV000019365 |
Variant: NM_003995.3(NPR2):c.1162C>T (p.Arg388Ter) |
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| Type: | Variant |
Allele: NM_003995.3(NPR2):c.1162C>T (p.Arg388Ter) 32826 |
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| Gene: | NPR2 |
| Type: | single nucleotide variant |
| Location: |
Chr9: 35800427
- assembly
GRCh38 Chr9: 35800424 - assembly GRCh37 |
| References: | dbSNP:
121912739 OMIM: 108961.0004 |
Condition |
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| Disease: | Acromesomelic dysplasia Maroteaux type |
Citation |
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For discussion of the arg388-to-ter (R388X) mutation in the NPR2 gene that was found in compound heterozygous state in affected members of a family with the Maroteaux type of acromesomelic dysplasia (AMDM; 602875) by Bartels et al. (2004), see 108961.0003. PMID:15146390 |
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