Genomic variant #0000016683

Chromosome 14
Allele Both (homozygous)
Affects function (reported) Affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.23282447C>A
DNA change (hg38) -
Published as 447G>T (exon 3): G54V
ISCN -
DB-ID SLC7A7_000006
Variant remarks 1 Latvian and 1 Estonian (both hom) LPI family; Functional analysis: loss of function
Reference PubMed: Mykkänen et al. 2000
dbSNP ID rs121908677
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.161G>T - r.161g>u p.(Gly54Val)