Variant #0000326040 (NC_000019.9:g.1401394C>G, GAMT(NM_000156.5):c.82G>C)

Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.1401394C>G
DNA change (hg38) g.1401395C>G
Published as GAMT(NM_000156.5):c.82G>C (p.(Asp28His))
ISCN -
DB-ID GAMT_012068
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GAMT NM_000156.5 ?/. - c.82G>C r.(?) p.(Asp28His)