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NM_003995.3(NPR2):c.2713G>T (p.Val905Leu) AND Acromesomelic dysplasia Maroteaux type

Significance: Uncertain significance
ClinVar: RCV000784968

Variant: NM_003995.3(NPR2):c.2713G>T (p.Val905Leu)

Type: Variant
Allele: NM_003995.3(NPR2):c.2713G>T (p.Val905Leu) 622395
Gene:
Type: single nucleotide variant
Location: Chr9: 35808509 - assembly GRCh38
Chr9: 35808506 - assembly GRCh37
References: dbSNP: 1357724443

Condition

Disease: Acromesomelic dysplasia Maroteaux type