Variant #0000873894 (NC_000009.11:g.34647528G>C, NM_000155.3:c.292G>C (GALT))

Individual ID 00414704
Chromosome 9
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.34647528G>C
DNA change (hg38) g.34647531G>C
Published as GALT exon 3, c.292G>C, D98H, chr9:34637528G>C (hg18) CM910169
ISCN -
DB-ID GALT_000025
Variant remarks causative, homozygous
Reference PubMed: Bell 2011
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 Anna Tracewska
Date created 2022-08-02 11:28:48 +02:00 (CEST)
Date last edited 2022-08-02 11:29:23 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GALT NM_000155.3 +?/. - c.292G>C r.(?) p.(Asp98His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000415985 DNA;RNA SEQ-NG blood - GALT 14 LOVD


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