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NM_000489.5(ATRX):c.3211G>A (p.Gly1071Arg) AND multiple conditions

Significance: Uncertain significance
ClinVar: RCV000764880

Variant: NM_000489.5(ATRX):c.3211G>A (p.Gly1071Arg)

Type: Variant
Allele: NM_000489.5(ATRX):c.3211G>A (p.Gly1071Arg) 471050
Gene:
Type: single nucleotide variant
Location: ChrX: 77682045 - assembly GRCh38
ChrX: 76937537 - assembly GRCh37
References: dbSNP: 143621153

Conditions

Disease: Mental retardation-hypotonic facies syndrome X-linked, 1
Disease: ATR-X syndrome
Disease: Acquired hemoglobin H disease