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NM_000401.3(EXT2):c.549_552CTGT[1] (p.Val187fs) AND Multiple exostoses type 2

Significance: Pathogenic
ClinVar: RCV000002575

Variant: NM_000401.3(EXT2):c.549_552CTGT[1] (p.Val187fs)

Type: Variant
Allele: NM_000401.3(EXT2):c.549_552CTGT[1] (p.Val187fs) 17510
Gene:
Type: Microsatellite
Location: Chr11: 44129716 - 44129719 - assembly GRCh37
Chr11: 44108166 - 44108169 - assembly GRCh38
References: dbSNP: 864309636
OMIM: 608210.0001

Condition

Disease: Multiple exostoses type 2

Citation

    In a family with multiple exostoses type II (EXT2; 133701), Stickens et al. (1996) identified a heterozygous 4-bp deletion (784-787) in the EXT2 gene, resulting in a frameshift and premature termination of translation, generating a truncated EXT2 gene product.
PMID:8782816