Individual #00289442

ID_report 3022
Reference -
Remarks -
Gender F
Consanguinity no
Country Italy
Population -
Age at death 25y (25 years)
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ARCL2A
Owner name Carmela Fusco
Database submission license No license selected
Created by Carmela Fusco
Date created 2020-03-11 10:33:21 +01:00 (CET)
Date last edited 2020-03-11 19:27:39 +01:00 (CET)


Phenotypes

cutis laxa, autosomal recessive, type IIA (ARCL-2A) (ARCL2A)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000223050 generalized skin wrinkling, delayed closure of the anterior fontanelle. Cutis Laxa ARCL2A Familial, autosomal recessive 25y 24y - - - Carmela Fusco



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290610 DNA SEQ-NG Blood - ATP6V0A2 2 Carmela Fusco



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
12 Maternal (confirmed) +?/. - pathogenic g.124197115G>C g.123712568G>C - - ATP6V0A2_000049 - - - - Germline yes - - - - Carmela Fusco ATP6V0A2 - - - - 1 NM_012463.3:c.3G>C - r.(?) p.(Met1?) - - - - - - - - - - - - - -
12 Paternal (confirmed) +?/. - pathogenic g.124228394dup g.123743847dup - - ATP6V0A2_000050 - - - - Germline yes - - - - Carmela Fusco ATP6V0A2 - - - - 10 NM_012463.3:c.1101dup - r.(?) p.(Thr368Hisfs*65) - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.