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NM_198488.4(FAM83H):c.2250C>T (p.Gly750=) AND Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2

Significance: not provided
ClinVar: RCV000083243

Variant: NM_198488.4(FAM83H):c.2250C>T (p.Gly750=)

Type: Variant
Allele: NM_198488.4(FAM83H):c.2250C>T (p.Gly750=) 102882
Gene:
Type: single nucleotide variant
Location: Chr8: 143727211 - assembly GRCh38
Chr8: 144809381 - assembly GRCh37
References: dbSNP: 431825179

Condition

Disease: Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2