Genomic variant #0000016691

Chromosome 14
Allele Maternal (confirmed)
Affects function (reported) Affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_23248002)_(23249260_?)del
DNA change (hg38) -
Published as 5.3-kbp Alu–mediated deletion from intron 2 to intron 4: exons 3 and 4 deletion.
ISCN -
DB-ID SLC7A7_000014 See all 2 reported entries
Variant remarks 1 Japanese LPI family (com-het); Deletion from intron 3 to intron 5 > deletion of exons 4 and 5
Reference PubMed: Kamada et al. 2001
dbSNP ID -
Germline/Somatic/De novo SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Anne Polvi




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Class.     

RNA change     

Protein     
SLC7A7 NM_001126105.2 +/+ i03-i05 c.500-?_770+?del - r.500_770del p.(Cys167*)