Genomic variant #0000016692

Chromosome 14
Allele Parent #1
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 IVS3-IVS5del9.7kb (intron 3 - intron 5) : exon 4 and 5 deletion in cDNAIVS3-IVS5del9.7kb (intron 3 - intron 5) : exon 4 and 5 deletion in cDNAIVS3-IVS5del9.7kb (intron 3 - intron 5) : exon 4 and 5 del
ISCN -
DB-ID SLC7A7_000014 See all 2 reported entries
Variant remarks 2 Japanese LPI families (1 hom and 1 com-het)
Reference PubMed: Shoji et al. 2002
dbSNP ID -
Germline/Somatic/De novo SUMMARY record
Segregation yes
Frequency 0/50 JAP CON
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*)