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NM_002139.4(RBMX):c.389-8T>C AND Mental retardation X-linked syndromic 11

Significance: Likely pathogenic
ClinVar: RCV000625831

Variant: NM_002139.4(RBMX):c.389-8T>C

Type: Variant
Allele: NM_002139.4(RBMX):c.389-8T>C 513389
Gene:
Type: single nucleotide variant
Location: ChrX: 136876663 - assembly GRCh38
ChrX: 135958822 - assembly GRCh37
References: dbSNP: 181515589

Condition

Disease: Mental retardation X-linked syndromic 11