Genomic variant #0000016678

Chromosome 14
Allele Both (homozygous)
Affects function (reported) Affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.23282109_23284530del
DNA change (hg38) -
Published as 197del543 (cDNA): removes the first methionine at position 242 as well as 167 codons downstream; c.-45_499del p.M1_C167del
ISCN -
DB-ID SLC7A7_000001
Variant remarks 1 Italian LPI family (hom)
Reference PubMed: Bosrsani et al. 1999
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 +/+ 02c c.-44_499del - r.? p.?