GENETIC ENCYCLOPEDIA
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NM_001024630.4(RUNX2):c.233_234insAGGA (p.Ala79fs) AND Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly

Significance: Uncertain significance
ClinVar: RCV000662188

Variant: NM_001024630.4(RUNX2):c.233_234insAGGA (p.Ala79fs)

Type: Variant
Allele: NM_001024630.4(RUNX2):c.233_234insAGGA (p.Ala79fs) 539000
Gene:
Type: Insertion
Location: Chr6: 45422767 - 45422768 - assembly GRCh38
Chr6: 45390504 - 45390505 - assembly GRCh37
References: dbSNP: 1338909353

Condition

Disease: Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly