Genomic variant #0000016703

Chromosome 14
Allele Both (homozygous)
Affects function (reported) Affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.23241729_23246375del4647
DNA change (hg38) -
Published as c.771-848_1908+718del4647: p.N258_N511delinsX
ISCN -
DB-ID SLC7A7_000026
Variant remarks 1 Spanish LPI family (hom)
Reference PubMed: Font-Llitjos et al. 2009
dbSNP ID -
Germline/Somatic/De novo SUMMARY record
Segregation yes
Frequency 0/50 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 +/+ i05- c.771-848_1908+718del4647 - r.? p.?