Genomic variant #0000039754

Chromosome 14
Allele Both (homozygous)
Affects function (reported) Probably affects function
Affects function (concluded) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.23282259_23282262delAAGC
DNA change (hg38) -
Published as c.344_347delTTGC, p.Leu115LeufsX53
ISCN -
DB-ID SLC7A7_000056
Variant remarks 1 Turkish patient (hom) with LPI
Reference PubMed: Güzel-Ozantürk et al. 2013
dbSNP ID -
Germline/Somatic/De novo SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP 0
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.346_349delGCTT - r.(?) p.(Ala116Serfs*53)