GENETIC ENCYCLOPEDIA
ABOUT US    

   

NM_000489.5(ATRX):c.7432C>G (p.Pro2478Ala) AND multiple conditions

Significance: Uncertain significance
ClinVar: RCV000766105

Variant: NM_000489.5(ATRX):c.7432C>G (p.Pro2478Ala)

Type: Variant
Allele: NM_000489.5(ATRX):c.7432C>G (p.Pro2478Ala) 512762
Gene:
Type: single nucleotide variant
Location: ChrX: 77508398 - assembly GRCh38
ChrX: 76763876 - assembly GRCh37
References: dbSNP: 199543136

Conditions

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