Variant #0000280097 (NC_000005.9:g.7897319G>A, MTRR(NM_002454.2):c.1911G>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.7897319G>A
DNA change (hg38) g.7897206G>A
Published as MTRR(NM_002454.2):c.1911G>A (p.A637=), MTRR(NM_002454.3):c.1911G>A (p.A637=)
ISCN -
DB-ID MTRR_000016 See all 2 reported entries
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) 0.31056 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.-46185C>T r.(?) p.(=)
MTRR NM_002454.2 -/. - c.1911G>A r.(?) p.(Ala637=)
FASTKD3 NM_024091.3 -/. - c.-28341C>T r.(?) p.(=)