Variant #0000681305 (NC_000019.9:g.1401343A>T, GAMT(NM_000156.5):c.133T>A)

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.1401343A>T
DNA change (hg38) -
Published as GAMT(NM_000156.5):c.133T>A (p.(Trp45Arg)), GAMT(NM_138924.2):c.133T>A (p.W45R)
ISCN -
DB-ID GAMT_012026 See all 8 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GAMT NM_000156.5 ?/. - c.133T>A r.(?) p.(Trp45Arg)