SAMD00281799
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
CAGE1 SNV c.2455C>T; CBL SNV c.1259G>A; EVI5 SNV c.281G>A; FLG2 SNV c.2947A>C; FLG2 SNV c.2753A>G; JAK1 SNV c.1972G>T; JAK1 SNV c.1937C>T; KRTAP13-3 SNV c.398G>A; MAPK6 SNV c.110C>T; MUC17 SNV c.6773C>G; MUC17 SNV c.8179G>A; PTPN11 SNV c.1471C>T; XPO1 SNV c.1711G>A; KDM5B Indel c.2590-3dupT; MUC17 Indel c.9298_9299delinsCC;
genotype
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
Case 3 PAF
sample name
PAF 3
http://purl.obolibrary.org/obo/MONDO_0018608
title