GENETIC ENCYCLOPEDIA
ABOUT US    

   

NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs) AND Stickler syndrome type 1

Significance: Pathogenic
ClinVar: RCV000853283

Variant: NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs)

Type: Variant
Allele: NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs) 679785
Gene:
Type: Duplication
Location: Chr12: 47978384 - 47978385 - assembly GRCh38
Chr12: 48372167 - 48372168 - assembly GRCh37

Condition

Disease: Stickler syndrome type 1