Variant #0000651773 (NC_000005.9:g.7897061T>C, MTRR(NM_002454.2):c.1761T>C)

Individual ID 00293916
Chromosome 5
Allele Parent #1
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.7897061T>C
DNA change (hg38) g.7896948T>C
Published as -
ISCN -
DB-ID C5orf49_000035 See all 2 reported entries
Variant remarks conflicting interpretations of pathogenicity; 17 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs6874544
Origin Germline
Segregation -
Frequency 17/2792 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01527 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MTRR NM_002454.2 ?/. - c.1761T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000295084 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq