NM_001375524.1(TRRAP):c.3104G>A (p.Arg1035Gln)Pathogenic
Developmental delay with or without dysmorphic facies and autism|not provided
β
β
ββ2026β Residue 1035
NM_001375524.1(TRRAP):c.3311A>G (p.Glu1104Gly)Pathogenic
Developmental delay with or without dysmorphic facies and autism|not provided|Inborn genetic diseases
β
β
ββ2025β Residue 1104
NM_001375524.1(TRRAP):c.3088G>A (p.Val1030Ile)Likely pathogenic
not provided
β
β
ββ2025β Residue 1030
NM_001375524.1(TRRAP):c.9952A>G (p.Met3318Val)Pathogenic
Developmental delay with or without dysmorphic facies and autism|Developmental delay with or without dysmorphic facies and autism;Hearing loss, autosomal dominant 75|Inborn genetic diseases
β
β
ββ2024β Residue 3318
NM_001375524.1(TRRAP):c.3081_3087delinsTAAGGC (p.Met1027fs)Likely pathogenic
not provided
β
βββ2025β Residue 1027
NM_001375524.1(TRRAP):c.10753G>T (p.Val3585Leu)Likely pathogenic
not provided
β
βββ2025β Residue 3585
NM_001375524.1(TRRAP):c.8734G>T (p.Glu2912Ter)Likely pathogenic
Developmental delay with or without dysmorphic facies and autism
β
βββ2024β Residue 2912
NM_001375524.1(TRRAP):c.310G>T (p.Glu104Ter)Likely pathogenic
Developmental delay with or without dysmorphic facies and autism
β
βββ2024β Residue 104
NM_001375524.1(TRRAP):c.5852A>G (p.His1951Arg)Pathogenic
not provided
β
βββ2024β Residue 1951
NM_001375524.1(TRRAP):c.6356_6358del (p.Thr2119del)Likely pathogenic
Developmental delay with or without dysmorphic facies and autism
β
βββ2024β Residue 2119
NM_001375524.1(TRRAP):c.7219A>G (p.Met2407Val)Likely pathogenic
not provided
β
βββ2024β Residue 2407
NM_001375524.1(TRRAP):c.5816C>T (p.Pro1939Leu)Likely pathogenic
Developmental delay with or without dysmorphic facies and autism
β
βββ2023β Residue 1939
NM_001375524.1(TRRAP):c.5722G>A (p.Val1908Ile)Likely pathogenic
See cases
β
βββ2023β Residue 1908
NM_001375524.1(TRRAP):c.3874C>A (p.Pro1292Thr)Likely pathogenic
Developmental delay with or without dysmorphic facies and autism
β
βββ2022β Residue 1292
NM_001375524.1(TRRAP):c.5596C>T (p.Arg1866Cys)Likely pathogenic
Developmental delay with or without dysmorphic facies and autism|not provided
β
βββ2022β Residue 1866
NM_001375524.1(TRRAP):c.1813-52T>ALikely pathogenic
Developmental delay with or without dysmorphic facies and autism
β
βββ2022
NM_001375524.1(TRRAP):c.3479G>T (p.Gly1160Val)Likely pathogenic
Developmental delay with or without dysmorphic facies and autism
β
βββ2022β Residue 1160
NM_001375524.1(TRRAP):c.3199C>T (p.Gln1067Ter)Likely pathogenic
Developmental delay with or without dysmorphic facies and autism
β
βββ2022β Residue 1067
NM_001375524.1(TRRAP):c.9911C>T (p.Pro3304Leu)Likely pathogenic
not provided
β
βββ2021β Residue 3304
NM_001375524.1(TRRAP):c.3093T>G (p.Ile1031Met)Likely pathogenic
TRRAP-related neurodevelopmental disorder
β
βββ2021β Residue 1031