Variant #0000735191 (NC_000019.9:g.3770938C>T, NM_032753.3:c.236G>A (RAX2))

Individual ID 00100098
Chromosome 19
Allele Both (homozygous)
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.3770938C>T
DNA change (hg38) g.3770940C>T
Published as -
ISCN -
DB-ID RAX2_000008
Variant remarks -
Reference PubMed: Maranha 2015, Journal: Maranhao 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-03-02 11:57:03 +01:00 (CET)
Date last edited 2025-01-01 07:31:38 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RAX2 NM_032753.3 +?/. - c.236G>A r.(?) p.(Arg79Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000100502 DNA SEQ WBC - FAM161A 7 James Hejtmancik


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