ABCA4ARc.[1957C > T];[4605insT]WESHuang et al., 2013cHuang et al., 2013c, Rivera et al., 2000
Case#: QT959, Chinese
DiseaseAssertion: Cone-rod dystrophy
FamilyInfo: no pedigree provided for this family in this paper
CasePresentingHPOs:
CaseHPOFreeText:
CaseNotHPOs:
CaseNotHPOFreeText:
PreviouslyPublished: 23776498-more phenotype information available there
Variant: c.[1957C > T];[4605insT] on WES
ClinVar: n/a
CAID: CA645372205
SupplementalData: n/a
Family 1ABCA4c.[1957C>T];[4604dup]M7.06.0PV, PP0.200.15MA, TPOD, ARAMA, TPOD, ARANormalReduced
Case#: Family 1 proband, male, 6yo at onset, Chinese
DiseaseAssertion: CORD
FamilyInfo: heterozygous unaffected parents
CasePresentingHPOs: HP:0000613, HP:0000505, HP:0007401, HP:0012511, HP:0008043, HP:0000512
CaseHPOFreeText: ERG responses from cones reduced, BVA=0.20/0.15
CaseNotHPOs:
CaseNotHPOFreeText:
PreviouslyPublished: n/a
Variant: c.[1957C>T];[4604dup] phase confirmed
ClinVar: n/a
CAID: CA645372205
SupplementalData: