Individual #00000536

Reference A Shalimar et al.(2007)
Gender M
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases CIPA
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-03-23 10:13:09 +08:00 (CST)
Date last edited 2021-08-01 13:29:37 +08:00 (CST)


Phenotypes

Congenital insensitivity to pain with anhydrosis (CIPA)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000180 insensitivity to pain, chronic eczematous skin, non-healing ulcers, sparse hair, malunion, hyperlaxed and deformed joints, and learning disabilities Familial Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000584 DNA PCR NTRK1 2 Nur Aisyah Athirah



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
1 Unknown +/. g.156880095G>C V709L A Shalimar et al.(2007) NTRK1_000001 rs759190964 2/6 - Nur Aisyah Athirah NTRK1 16 NM_001012331.1:c.2125G>C - r.(?) p.(Val709Leu) - -
1 Unknown +/. g.156880122G>A G718S A Shalimar et al.(2007) NTRK1_000002 - 3/6 - Nur Aisyah Athirah NTRK1 16 NM_001007792.1:c.2062G>A - r.(?) p.(Gly688Ser) - -
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