Variant #0000280091 (NC_000005.9:g.7873516G>A, MTRR(NM_002454.2):c.160G>A)

Chromosome 5
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.7873516G>A
DNA change (hg38) g.7873403G>A
Published as MTRR(NM_002454.2):c.160G>A (p.V54I)
ISCN -
DB-ID MTRR_000017 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) Variant not found in online data sets
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C5orf49 NM_001089584.2 ?/. - c.-22382C>T r.(?) p.(=)
MTRR NM_002454.2 ?/. - c.160G>A r.(?) p.(Val54Ile)
FASTKD3 NM_024091.3 ?/. - c.-4538C>T r.(?) p.(=)