Unique variants in the SLC7A7 gene

Information The variants shown are described using the NM_001126105.2 transcript reference sequence.

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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 1 i06 c.895-2A>T r.895_904delacuuuugcag p.Thr299Ilefs*10 - pathogenic g.23245147T>A g.22775938T>A genomic change 1181-2A>T leads to alternative splicing: c.1181delACTTTTGCAG - SLC7A7_000030 Finnish Major LPI mutation: 35 Finnish LPI patients (hom); Functional analysis: loss of function PubMed: Torrens et al. 1999, PubMed: Bosrsani et al. 1999 - rs146582474 SUMMARY record yes - - - - Anne Polvi
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