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NM_000489.5(ATRX):c.4070A>G (p.Lys1357Arg) AND multiple conditions

Significance: Uncertain significance
ClinVar: RCV000678264

Variant: NM_000489.5(ATRX):c.4070A>G (p.Lys1357Arg)

Type: Variant
Allele: NM_000489.5(ATRX):c.4070A>G (p.Lys1357Arg) 411489
Gene:
Type: single nucleotide variant
Location: ChrX: 77663432 - assembly GRCh38
ChrX: 76918921 - assembly GRCh37
References: dbSNP: 1064796812
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System: ADMI00006

Conditions

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