Variant #0000280101 (NC_000005.9:g.7878424T>A, MTRR(NM_002454.2):c.769T>A)

Chromosome 5
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.7878424T>A
DNA change (hg38) g.7878311T>A
Published as MTRR(NM_002454.2):c.769T>A (p.S257T)
ISCN -
DB-ID MTRR_000021
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) 0.04338 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C5orf49 NM_001089584.2 -/. - c.-27290A>T r.(?) p.(=)
MTRR NM_002454.2 -/. - c.769T>A r.(?) p.(Ser257Thr)
FASTKD3 NM_024091.3 -/. - c.-9446A>T r.(?) p.(=)