Variant #0000526117 (NC_000005.9:g.7896969_7896972del, MTRR(NM_002454.2):c.1677-8_1677-5del)

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.7896969_7896972del
DNA change (hg38) g.7896856_7896859del
Published as MTRR(NM_002454.2):c.1677-8_1677-5del (p.?)
ISCN -
DB-ID C5orf49_000032
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) 0 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.-45838_-45835del r.(?) p.(=)
MTRR NM_002454.2 -?/. - c.1677-8_1677-5del r.spl? p.?
FASTKD3 NM_024091.3 -?/. - c.-27994_-27991del r.(?) p.(=)