c.1-?_6030+?del: Whole gene deletion

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.1-?_6030+?del
cds alteration type Whole gene deletion
Zygosis Heterozygous
AA change -
AA alteration type Whole gene deletion
Detection methods aCGH, FISH
Known variant
Reference ID
MAF in 1000G
MAF in genomAD
Exon/Intron Exon1
Protein Domain -
Inheritance De novo
Variant Classification Pathogenic
Clinical diagnosis Pulmonary Emphysema
Gender Female
Ethnogenesis Unknown
Family history Negative
Age of seizure onset 2 months old
Short descriptions for Cases
References Takatsuki, Shinichi, et al. "Severe pulmonary emphysema in a girl with interstitial deletion of 2q24. 2q24. 3 including ITGB6." American Journal of Medical Genetics Part A 152.4 (2010): 1020-1025.
co-existing variant(s)