Variant #0000330254 (NC_000005.9:g.7868043G>C, MTRR(NM_002454.2):c.-1311G>C)

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.7868043G>C
DNA change (hg38) g.7867930G>C
Published as FASTKD3(NM_024091.3):c.154C>G (p.(Pro52Ala))
ISCN -
DB-ID FASTKD3_000004
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_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.-16909C>G r.(?) p.(=)
MTRR NM_002454.2 ?/. - c.-1311G>C r.(?) p.(=)
FASTKD3 NM_024091.3 ?/. - c.154C>G r.(?) p.(Pro52Ala)