NM_003995.3(NPR2):c.1815+2T>C AND Acromesomelic dysplasia Maroteaux type
| Significance: | Uncertain significance |
|---|---|
| ClinVar: | RCV000778883 |
Variant: NM_003995.3(NPR2):c.1815+2T>C |
|
| Type: | Variant |
Allele: NM_003995.3(NPR2):c.1815+2T>C 620811 |
|
| Gene: | NPR2 |
| Type: | single nucleotide variant |
| Location: |
Chr9: 35802609
- assembly
GRCh38 Chr9: 35802606 - assembly GRCh37 |
| References: | dbSNP:
1563988864 Illumina Clinical Services Laboratory,Illumina: 766789 |
Condition |
|
| Disease: | Acromesomelic dysplasia Maroteaux type |