Individual #00048005

ID_report -
Reference -
Remarks -
Gender M
Consanguinity yes
Country Turkey
Population Turks
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases CSS
Owner name Eyyup Uctepe


Phenotypes

Coffin-Siris syndrome (CSS) (CSS)   Add phenotype for this disease

AscendingPhenotype ID     

Birth_Details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Birth/Weight     

Age/Examination     

Age/Diagnosis     

OFC at birth (SDS)     

Age/Onset     

Height-Weight-OFC     

Phenotype/Onset     

Abdominal/Symptoms     

Feeding_Problems/Start     

Feeding_Problems/Duration     

Eczema     

Phenotype details     

Skin/Vascular     

Hypotonia     

Seizures     

Seizures/Age/Onset     

Seizure/Frequency     

Seizure/Type     

Growth     

Vision/Abnormality     

Vision/Other     

Hearing/Loss     

Other hearing problems     

Speech     

Cognitive/Impairment     

Behaviour/Abnormality     

Hair/Scalp     

Eyebrows     

Eyelashes     

MotorSkills     

Lacrimal_Duct     

Ptosis     

Choanal_Stenosis     

Nose/Bridge     

Nose/Alae     

Philtrum/Width     

Face/Philtrum     

Facial/Mouth/Wide     

Cleft     

Ears/Abnormal     

Ears/Tags     

Hypertrichosis     

Skin/Wrinkling     

Scoliosis     

Pectus_Excavatum     

Elbow/Dislocated     

Patella/Small     

Brachydactyly     

Phalanges/Distal/Absent_5th     

Nails/Small     

Joints/Interphalangeal/Proximal     

Phalanges/Distal/Prominent     

Joint/Laxity     

Intestine/Abnormality     

Heart/Abnormality     

Kidney/Abnormality     

Teeth/Anomalies     

Infections     

Epiphyses/Cone_shaped     

Brain/MRI     

Brain/Corpus_Callosum/Agenesis     

Missing hypoplastic phalanx of fingers or toes     

Bone/Age     

Stenosis_Pyloric     

Gastro-Esophoegal_Reflux     

Hernia     

Eye/Cornea     

Eye/Orbital     

Protein     

Eye/Movement     

Facial/Lips     

Owner     
0000034731 - - - Isolated (sporadic) - 15y - - - - - - - - - coarse face, low frontal hairline, synophrys, thick eyebrows, broad nose, thick, anteverted alae nasi, large mounth, Thin upper vermillion, thick lower vermillion, short philtrum, short neck and large ears,bilaterally big, large thumb and short second finger on food, hallux valgus and pes planus - - - - - - - - - - - - - - - - - - - - - - - - - - - nr - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Eyyup Uctepe



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000048131 DNA SEQ-NG-I - - ARID1B 1 Eyyup Uctepe



Variants

1 entry on 1 page. Showing entry 1.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
6 Unknown +/. g.157505413_157505414insTA g.157184279_157184280insTA - - ARID1B_000018 - - - - Unknown - - - 0 - Eyyup Uctepe ARID1B - - - - - 13 NM_020732.3:c.3394_3395insTA - - r.(?) p.(Gly1132Valfs*11) - - - - - - - - - - - - - - - - - - -
Legend