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Variant : CV467380 (NC_000017.11:g.(?_7669603)_(8382316_?)del) Homo sapiens

Symbol: CV467380
Name: NC_000017.11:g.(?_7669603)_(8382316_?)del
Condition: Diamond-Blackfan anemia [RCV000538057]
Clinical Significance: pathogenic
Last Evaluated: 05/11/2017
Review Status: criteria provided, single submitter
Related Genes: ALOX12B   ALOX15B   ALOXE3   ARHGEF15   AURKB   BORCS6   CHD3   CNTROB   CTC1   CYB5D1   DNAH2   EFNB3   GUCY2D   HES7   KCNAB3   KDM6B   KRBA2   LINC00324   MIR4314   MIR4521   MIR6883   NAA38   ODF4   PER1   PFAS   RANGRF   RNF227   RPL26   SCARNA21   SLC25A35   SNORD118   TMEM107   TMEM88   TP53   TRAPPC1   TRD-GTC2-11   TRG-GCC2-6   TRG-TCC3-1   TRI-AAT4-1   TRI-AAT5-5   TRK-TTT3-5   TRL-TAG1-1   TRP-CGG1-3   TRQ-CTG1-5   TRR-TCT2-1   TRS-AGA2-6   TRS-CGA1-1   TRS-GCT4-3   TRT-AGT1-1   TRT-AGT1-2   TRT-AGT5-1   TRW-CCA1-1   TRW-CCA3-3   VAMP2   WRAP53  
Variant Type: deletion (SO:0000159)
Evidence: clinical testing
HGVS Name(s): NC_000017.10:g.(?_7572921)_(8285634_?)del
Human AssemblyChrPosition (strand)Source
GRCh38177,669,603 - 8,382,316CLINVAR
GRCh37177,572,921 - 8,285,634CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: Aase syndrome; Aase-Smith syndrome II; Anemia congenital erythroid hypoplastic; ANEMIA, CONGENITAL HYPOPLASTIC, OF BLACKFAN AND DIAMOND; Aregenerative anemia chronic congenital; Blackfan Diamond syndrome; Congenital hypoplastic anemia; Erythrogenesis imperfecta; Red cell aplasia, pure hereditary

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13496747
Created: 2018-01-09
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.