Variant #0000526105 (NC_000005.9:g.7885808C>T, MTRR(NM_002454.2):c.904-6C>T)

Chromosome 5
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.7885808C>T
DNA change (hg38) g.7885695C>T
Published as MTRR(NM_002454.2):c.904-6C>T (p.(=))
ISCN -
DB-ID C5orf49_000020
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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C5orf49 NM_001089584.2 -?/. - c.-34674G>A r.(?) p.(=)
MTRR NM_002454.2 -?/. - c.904-6C>T r.(=) p.(=)
FASTKD3 NM_024091.3 -?/. - c.-16830G>A r.(?) p.(=)