GENETIC ENCYCLOPEDIA
ABOUT US    

   

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:
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