Variant #0000526106 (NC_000005.9:g.7886819A>T, MTRR(NM_002454.2):c.1146+3A>T)

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.7886819A>T
DNA change (hg38) g.7886706A>T
Published as MTRR(NM_002454.2):c.1146+3A>T
ISCN -
DB-ID C5orf49_000022
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C5orf49 NM_001089584.2 ?/. - c.-35685T>A r.(?) p.(=)
MTRR NM_002454.2 ?/. - c.1146+3A>T r.spl? p.?
FASTKD3 NM_024091.3 ?/. - c.-17841T>A r.(?) p.(=)