GENETIC ENCYCLOPEDIA
ABOUT US    

   

NM_001024630.4(RUNX2):c.217del (p.Ala73fs) AND Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly

Significance: Pathogenic
ClinVar: RCV000662190

Variant: NM_001024630.4(RUNX2):c.217del (p.Ala73fs)

Type: Variant
Allele: NM_001024630.4(RUNX2):c.217del (p.Ala73fs) 538999
Gene:
Type: Deletion
Location: Chr6: 45390488 - assembly GRCh37
Chr6: 45422751 - assembly GRCh38
References: dbSNP: 1554384228

Condition

Disease: Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly