Variant #0000001929 (NC_000016.9:g.11643549C>T, LITAF(NM_004862.3):c.430G>A)

Individual ID 00001929
Chromosome 16
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.11643549C>T
Reference Gerding WM1, Koetting J, Epplen JT, Neusch C.(2009)
DB-ID LITAF_000005
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
LITAF NM_004862.3 ./. 4 c.430G>A r.(?) p.(Val144Met) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001929 ? ? LITAF 1 Y Yang