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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)

Type: Variant
Allele: NM_003995.3(NPR2):c.1162C>T (p.Arg388Ter) 32826
Gene:
Type: single nucleotide variant
Location: Chr9: 35800427 - assembly GRCh38
Chr9: 35800424 - assembly GRCh37
References: dbSNP: 121912739
OMIM: 108961.0004

Condition

Disease: Acromesomelic dysplasia Maroteaux type

Citation

    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