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NM_003995.3(NPR2):c.2944G>A (p.Asp982Asn) AND Acromesomelic dysplasia Maroteaux type

Significance: Pathogenic
ClinVar: RCV000416371

Variant: NM_003995.3(NPR2):c.2944G>A (p.Asp982Asn)

Type: Variant
Allele: NM_003995.3(NPR2):c.2944G>A (p.Asp982Asn) 362066
Gene:
Type: single nucleotide variant
Location: Chr9: 35808811 - assembly GRCh38
Chr9: 35808808 - assembly GRCh37
References: dbSNP: 1057519336

Condition

Disease: Acromesomelic dysplasia Maroteaux type