NM_006662.3(SRCAP):c.5633dup (p.Pro1879fs)Pathogenic
Neurodevelopmental disorder|not provided|Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities|Floating-Harbor syndrome;Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities|SRCAP-related disorder|Floating-Harbor syndrome
β
β
ββ2025β Residue 1879
NM_006662.3(SRCAP):c.7255C>T (p.Gln2419Ter)Pathogenic
not provided|Floating-Harbor syndrome
β
β
ββ2025β Residue 2419
NM_006662.3(SRCAP):c.7382del (p.Pro2461fs)Pathogenic
not provided|Floating-Harbor syndrome
β
β
ββ2025β Residue 2461
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter)Pathogenic
Floating-Harbor syndrome|not provided|Inborn genetic diseases|See cases|Neurodevelopmental delay|SRCAP-related disorder|Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities|Monogenic short statue|Developmental delay
β
β
ββ2025β Residue 2444
NM_006662.3(SRCAP):c.7727C>G (p.Ser2576Ter)Pathogenic
not provided|Floating-Harbor syndrome
β
β
ββ2025β Residue 2576
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)Pathogenic
Floating-Harbor syndrome|not provided|Inborn genetic diseases
β
β
ββ2025β Residue 2435
NM_006662.3(SRCAP):c.8242C>T (p.Arg2748Ter)Pathogenic
not provided|Floating-Harbor syndrome
β
β
ββ2025β Residue 2748
NM_006662.3(SRCAP):c.7376del (p.Pro2459fs)Pathogenic
Inborn genetic diseases|not provided|Floating-Harbor syndrome
β
β
ββ2024β Residue 2459
NM_006662.3(SRCAP):c.7219C>T (p.Gln2407Ter)Pathogenic
Floating-Harbor syndrome|not provided|Inborn genetic diseases
β
β
ββ2024β Residue 2407
NM_006662.3(SRCAP):c.6985C>T (p.Arg2329Ter)Pathogenic
not provided|Floating-Harbor syndrome
β
β
ββ2024β Residue 2329
NM_006662.3(SRCAP):c.8152C>T (p.Arg2718Ter)Pathogenic
not provided|Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities;Floating-Harbor syndrome
β
β
ββ2023β Residue 2718
NM_006662.3(SRCAP):c.7993C>T (p.Gln2665Ter)Pathogenic
Floating-Harbor syndrome
β
β
ββ2023β Residue 2665
NM_006662.3(SRCAP):c.7387del (p.Ser2463fs)Pathogenic
not provided
β
β
ββ2022β Residue 2463
NM_006662.3(SRCAP):c.7727C>A (p.Ser2576Ter)Pathogenic
Inborn genetic diseases|not provided
β
β
ββ2018β Residue 2576
NM_006662.3(SRCAP):c.1135-2A>CLikely pathogenic
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
β
βββ2026
NM_006662.3(SRCAP):c.7183_7184del (p.Val2395fs)Likely pathogenic
not provided
β
βββ2025β Residue 2395
NM_006662.3(SRCAP):c.7225dup (p.Ala2409fs)Likely pathogenic
Floating-Harbor syndrome
β
βββ2025β Residue 2409
NM_006662.3(SRCAP):c.7537_7538delinsGTGTA (p.Pro2513delinsValTer)Pathogenic
Floating-Harbor syndrome
β
βββ2025β Residue 2513
NM_006662.3(SRCAP):c.7549del (p.Gln2517fs)Pathogenic
Floating-Harbor syndrome|Inborn genetic diseases
β
βββ2025β Residue 2517
NM_006662.3(SRCAP):c.7699del (p.Ala2567fs)Likely pathogenic
not provided
β
βββ2025β Residue 2567