Variant #0000330253 (NC_000005.9:g.7867919T>C, MTRR(NM_002454.2):c.-1435T>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.7867919T>C
DNA change (hg38) g.7867806T>C
Published as FASTKD3(NM_024091.3):c.278A>G (p.(Asn93Ser))
ISCN -
DB-ID FASTKD3_000003
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) 0.00082 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.-16785A>G r.(?) p.(=)
MTRR NM_002454.2 ?/. - c.-1435T>C r.(?) p.(=)
FASTKD3 NM_024091.3 ?/. - c.278A>G r.(?) p.(Asn93Ser)