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NM_000505.3(F12):c.983C>G (p.Thr328Arg) AND Hereditary angioneurotic edema with normal C1 esterase inhibitor activity

Significance: Pathogenic
ClinVar: RCV000001229

Variant: NM_000505.3(F12):c.983C>G (p.Thr328Arg)

Type: Variant
Allele: NM_000505.3(F12):c.983C>G (p.Thr328Arg) 16209
Gene:
Type: single nucleotide variant
Location: Chr5: 176831232 - assembly GRCh37
Chr5: 177404231 - assembly GRCh38
References: dbSNP: 118204456
OMIM: 610619.0007
UniProtKB: P00748#VAR_031502

Condition

Disease: Hereditary angioneurotic edema with normal C1 esterase inhibitor activity

Citation

    In a family of German origin with HAE type III (610618), Dewald and Bork (2006) detected heterozygosity for a 1032C-G transversion in exon 9 of the F12 gene that gave rise to a substitution of arginine for threonine at codon 309 of the mature protein (T309R).
PMID:16638441