Variant #0000802184 (NC_000005.9:g.7883266A>T, MTRR(NM_002454.2):c.781-2A>T)

Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.7883266A>T
DNA change (hg38) -
Published as MTRR(NM_001364440.1):c.781-2A>T
ISCN -
DB-ID C5orf49_000037
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 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C5orf49 NM_001089584.2 +/. - c.-32132T>A r.(?) p.(=)
MTRR NM_002454.2 +/. - c.781-2A>T r.spl? p.?
FASTKD3 NM_024091.3 +/. - c.-14288T>A r.(?) p.(=)