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NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) AND Stickler syndrome type 1

Significance: Pathogenic
ClinVar: RCV000018938

Variant: NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)

Type: Variant
Allele: NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) 32434
Gene:
Type: single nucleotide variant
Location: Chr12: 47983721 - assembly GRCh38
Chr12: 48377504 - assembly GRCh37
References: dbSNP: 121912893
OMIM: 120140.0045

Condition

Disease: Stickler syndrome type 1