Variant #0000647345 (NC_000001.10:g.116236581G>A, NM_138959.2:c.*2581G>A (VANGL1))

Individual ID 00289488
Chromosome 1
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.116236581G>A
DNA change (hg38) g.115693960G>A
Published as -
ISCN -
DB-ID VANGL1_000006 See all 2 reported entries
Variant remarks 194 heterozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs3811008
Origin Germline
Segregation -
Frequency 194/2793 individuals
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-03-11 19:46:11 +01:00 (CET)
Date last edited 2023-02-15 13:53:36 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
VANGL1 NM_138959.2 -?/. - c.*2581G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290656 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq


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