Variant #0000526090 (NC_000005.9:g.7867658G>A, MTRR(NM_002454.2):c.-1696G>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.7867658G>A
DNA change (hg38) g.7867545G>A
Published as FASTKD3(NM_024091.3):c.539C>T (p.(Thr180Ile))
ISCN -
DB-ID C5orf49_000005
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) 1.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C5orf49 NM_001089584.2 ?/. - c.-16524C>T r.(?) p.(=)
MTRR NM_002454.2 ?/. - c.-1696G>A r.(?) p.(=)
FASTKD3 NM_024091.3 ?/. - c.539C>T r.(?) p.(Thr180Ile)