Variant #0000647623 (NC_000001.10:g.236990141G>A, MTR(NM_000254.2):c.940G>A)

Individual ID 00289766
Chromosome 1
Allele Parent #1
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.236990141G>A
DNA change (hg38) g.236826841G>A
Published as -
ISCN -
DB-ID MTR_000006 See all 3 reported entries
Variant remarks 21 heterozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs2229274
Origin Germline
Segregation -
Frequency 21/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01867 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     
MTR NM_000254.2 -?/. - c.940G>A r.(?) p.(Asp314Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290934 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq