chr1:236899132:T>C Detail (hg38) (MTR)

Information

Genome

Assembly Position
hg19 chr1:237,062,432-237,062,432 View the variant detail on this assembly version.
hg38 chr1:236,899,132-236,899,132

HGVS

Type Transcript Protein
RefSeq NM_000254.2:c.*1488T>C
Ensemble ENST00000366577.10:c.*1488T>C
ENST00000674797.2:c.*1488T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.140
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 156570 OMIM
HGNC 7468 HGNC
Ensembl ENSG00000116984 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv5293200 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-01-12 criteria provided, single submitter Disorders of Intracellular Cobalamin Metabolism germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.004 Non-small cell lung carcinoma Variant alleles were significantly associated with favorable survivals of NSCLC ... BeFree 20737570 Detail
0.003 Non-small cell lung carcinoma Variant alleles were significantly associated with favorable survivals of NSCLC ... BeFree 20737570 Detail
0.003 Non-small cell lung carcinoma Variant alleles were significantly associated with favorable survivals of NSCLC ... BeFree 20737570 Detail
0.003 Non-small cell lung carcinoma Variant alleles were significantly associated with favorable survivals of NSCLC ... BeFree 20737570 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000254.3(MTR):c.*1488T>C AND Disorders of Intracellular Cobalamin Metabolism ClinVar Detail
Variant alleles were significantly associated with favorable survivals of NSCLC for MTR rs3768160 A&... DisGeNET Detail
Variant alleles were significantly associated with favorable survivals of NSCLC for MTR rs3768160 A&... DisGeNET Detail
Variant alleles were significantly associated with favorable survivals of NSCLC for MTR rs3768160 A&... DisGeNET Detail
Variant alleles were significantly associated with favorable survivals of NSCLC for MTR rs3768160 A&... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3768160 dbSNP
Genome
hg38
Position
chr1:236,899,132-236,899,132
Variant Type
snv
Reference Allele
T
Alternative Allele
C
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs3768160
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1402
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2350
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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