Variant #0000652939 (NC_000023.10:g.64743458C>T, LAS1L(NM_031206.4):c.1430G>A)

Individual ID 00295082
Chromosome X
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.64743458C>T
DNA change (hg38) g.65523578C>T
Published as -
ISCN -
DB-ID LAS1L_000025
Variant remarks 13 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs797044926
Origin Germline
Segregation -
Frequency 13/2654 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Mohammed Faruq
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 +?/. - c.1430G>A r.(?) p.(Ser477Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000296250 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq