Genomic variant #0000016719

Chromosome 14
Allele Both (homozygous)
Affects function (reported) Affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.23243309delG
DNA change (hg38) -
Published as 1548delC (exon 10) Frameshift after F420
ISCN -
DB-ID SLC7A7_000042
Variant remarks 1 Arabic LPI family (hom); Functional analysis: loss of function
Reference PubMed: Mykkanen et al. 2000
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 +/+ 10 c.1262delC - r.1262delc p.(Pro421Argfs*98)