Variant #0000566300 (NC_000019.9:g.1401397A>G, GAMT(NM_000156.5):c.79T>C)

Chromosome 19
Allele Unknown
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.1401397A>G
DNA change (hg38) g.1401398A>G
Published as GAMT(NM_000156.6):c.79T>C (p.Y27H), GAMT(NM_138924.2):c.79T>C (p.Y27H)
ISCN -
DB-ID GAMT_012044 See all 5 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) 0.00277 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GAMT NM_000156.5 -?/. - c.79T>C r.(?) p.(Tyr27His)