Variant #0000326039 (NC_000019.9:g.1399879C>G, GAMT(NM_000156.5):c.240G>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.1399879C>G
DNA change (hg38) g.1399880C>G
Published as GAMT(NM_000156.5):c.240G>C (p.(Glu80Asp))
ISCN -
DB-ID GAMT_012067
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GAMT NM_000156.5 -?/. - c.240G>C r.(?) p.(Glu80Asp)
NDUFS7 NM_024407.4 -?/. - c.*4392C>G r.(=) p.(=)