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: | NPR2 SPAG8 |
| Type: | single nucleotide variant |
| Location: |
Chr9: 35808509
- assembly
GRCh38 Chr9: 35808506 - assembly GRCh37 |
| References: | dbSNP:
1357724443 |
Condition |
|
| Disease: | Acromesomelic dysplasia Maroteaux type |