Genomic variant #0000016704

Chromosome 14
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.23245516A>G
DNA change (hg38) g.22776307A>G
Published as c.782T>C p.L261P
ISCN -
DB-ID SLC7A7_000027
Variant remarks 1 Italian LPI family (com-het)
Reference PubMed: Sperandeo_2008
ClinVar ID -
dbSNP ID -
Origin 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)     

ClassClinical     

RNA change     

Protein     
SLC7A7 NM_001126105.2 +?/+? 06 c.782T>C - r.(782u>c) p.(Leu261Pro)