Genomic variant #0000016725

Chromosome 14
Allele Maternal (confirmed)
Affects function (reported) Affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.23243169G>A
DNA change (hg38) -
Published as c.1402C>T: p.R468X
ISCN -
DB-ID SLC7A7_000048
Variant remarks 1 Greek sibpair (com-het) with LPI
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 +/+ 10 c.1402C>T - r.(1402c>u) p.(Arg468*)