Genomic variant #0000017959

Chromosome 14
Allele Unknown
Affects function (reported) Probably affects function
Affects function (concluded) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.23282450G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID SLC7A7_000052
Variant remarks 1 Italian LPI family (hom); Variants c.14C>T and c.158C>T segregate together so it is unclear which is (or both are) causative
Reference PubMed: Sperandeo et al. 2008
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 +?/+? 03 c.158C>T - r.(158c>u) p.(Ser53Leu)