Genomic variant #0000016722

Chromosome 14
Allele Parent #1
Affects function (reported) Affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.23243200G>T
DNA change (hg38) -
Published as 1657C>A: Y457X; p.Y457X (c.1371C>A)
ISCN -
DB-ID SLC7A7_000045
Variant remarks 1 French-Algerian and 1 Greek LPI family (both com-het) and 1 Moroccan LPI family (hom); Functional studies confirmed disease-causative role
Reference PubMed: PalacĂ­n et al. 2001, PubMed: Sperandeo et al. 2005, PubMed: Font-Llitjos et al. 2009
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 +/+ 10 c.1371C>A - r.1371c>a p.(Tyr457*)