KEGG VARIANT: 4683v1

VARIANT: 4683v1

Entry

4683v1                      Variant

Name

NBN mutation

Type

Loss of function

Gene

NBN nibrin [KO:K10867]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 602667

Network

nt06506 Double-strand break repair

Disease

Aplastic anemia

Nijmegen breakage syndrome

Reference

Authors

Shimada H, Shimizu K, Mimaki S, Sakiyama T, Mori T, Shimasaki N, Yokota J, Nakachi K, Ohta T, Ohki M

Title

First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability.

Journal

Hum Genet 115:372-6 (2004)
DOI:10.1007/s00439-004-1155-1

Reference

Authors

Chrzanowska KH, Gregorek H, Dembowska-Baginska B, Kalina MA, Digweed M

Title

Nijmegen breakage syndrome (NBS).

Journal

Orphanet J Rare Dis 7:13 (2012)
DOI:10.1186/1750-1172-7-13

LinkDB

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