SAMD00281798
External Id
West China Hospital, Chengdu, China
INSDC center name
2021-02-16T00:00:00Z
INSDC first public
2021-02-16T00:11:53Z
INSDC last update
live
INSDC status
Generic
NCBI submission model
Generic.1.0
NCBI submission package
PAF
http://purl.obolibrary.org/obo/MONDO_0018608
disease
ATRN SNV c.1643A>C; CEACAM1 SNV c.1051+2T>C; FBN2 SNV c.5675-2A>T; MUC17 SNV c.9026G>C; MUC17 SNV c.9035C>T; MUC17 SNV c.10136T>C; PDHA2 SNV c.691A>G; RASSF8 SNV c.437G>T; RYR2 SNV c.767A>G; SF3B1 SNV c.1874G>A; UNCX SNV c.1258C>A; ZNF850 SNV c.2572G>C; ZSCAN16 SNV c.304C>A; COL6A5 Indel c.6975delC; FREM3 Indel c.5186-3dupT; SMARCB1 Indel c.334_335delAT
genotype
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
Case 2 PAF
sample name
PAF 2
http://purl.obolibrary.org/obo/MONDO_0018608
title