Variant #0000408107 (NC_000023.10:g.64749132G>C, LAS1L(NM_031206.4):c.806C>G)

Individual ID 00183180
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.64749132G>C
DNA change (hg38) g.65529252G>C
Published as Ala269Gly
ISCN -
DB-ID LAS1L_000016 See all 2 reported entries
Variant remarks -
Reference PubMed: Hu 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LAS1L NM_031206.4 +/. 6 c.806C>G r.(?) p.(Ala269Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184138 DNA SEQ;SEQ-NG - WES-X chromosome LAS1L 1 Johan den Dunnen