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NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs) AND Hyaline fibromatosis syndrome

Significance: Pathogenic
ClinVar: RCV000002722

Variant: NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs)

Type: Variant
Allele: NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs) 17643
Gene:
Type: Duplication
Location: Chr4: 79984832 - assembly GRCh38
Chr4: 80905986 - assembly GRCh37
References: dbSNP: 312262690
OMIM: 608041.0007
Undiagnosed Diseases Network,NIH: 4338e405-4459-4234-9076-32d3a58ac2c7_1

Condition

Disease: Hyaline fibromatosis syndrome