All individuals with variants in gene HRAS

11 entries on 1 page. Showing entries 1 - 11.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00081027 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - CSTLO Costello syndrome (OMIM:218040) 1 1 Daniel Trujillano
00081037 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - CSTLO Costello syndrome (OMIM:218040) 1 1 Daniel Trujillano
00295130 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00306130 63 - - F - China - - - - - CSTLO - 1 1 Sha Hong
00307797 UK10K_FINDWGA5411109 PubMed: Grozeva 2015, Journal: Grozeva 2015 - F - - - - - - - ID - 1 1 Johan den Dunnen
00374112 - PubMed: Lefebvre 2021 fetus M - France - - - - - ? 24w-fetus, ultrasound Hydrops, cerebellar hypoplasia; autopsy Hydrops, interventricular communication, brachydactyly, partal vermian hypoplasia; Partal vermian hypoplasia 1 1 Johan den Dunnen
00374113 - PubMed: Lefebvre 2021 fetus M - France - - - - - ? 15w-fetus, ultrasound Fetal akinesia; autopsy Hydrops, retrognathia, posterior cleft palate; Posterior cleft palate 1 1 Johan den Dunnen
00383171 - - - - - - - - - - - CSTLO - 1 1 Yoko Aoki
00410435 Patient 9 - - F no China - - - - - CSTLO - 1 1 Simin Zheng
00418363 patient PubMed: Carlston 2019 2 generation family, 1 affected, unaffected carrier mother M - United States - - - - - ID see paper; ..., developmental delay, relative macrocephaly, dilated cardiomyopathy with LVNC and Ebstein anomaly.; MRI brain thick corpus callosum, mild Chiari I malformation, flattened pituitary 1 1 Johan den Dunnen
00419525 20020 PubMed: Marinakis 2021 - M - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
Legend   How to query