chr5:7893121:G>A Detail (hg19) (MTRR)

Information

Genome

Assembly Position
hg19 chr5:7,893,121-7,893,121
hg38 chr5:7,893,008-7,893,008 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002454.2:c.1638+95G>A
NM_024010.2:c.1638+95G>A
NR_134480.1:c.1638+95G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.452
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 602568 OMIM
HGNC 7473 HGNC
Ensembl ENSG00000124275 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv20178842 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-06-29 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.007 Malignant neoplasm of breast A stratified analysis by menopausal status indicated the association between the... BeFree 20180013 Detail
0.003 breast carcinoma A stratified analysis by menopausal status indicated the association between the... BeFree 20180013 Detail
0.007 breast carcinoma A stratified analysis by menopausal status indicated the association between the... BeFree 20180013 Detail
0.017 Malignant neoplasm of breast A stratified analysis by menopausal status indicated the association between the... BeFree 20180013 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002454.3(MTRR):c.1557+95G>A AND not provided ClinVar Detail
A stratified analysis by menopausal status indicated the association between the NAT2 SNP (rs1799930... DisGeNET Detail
A stratified analysis by menopausal status indicated the association between the NAT2 SNP (rs1799930... DisGeNET Detail
A stratified analysis by menopausal status indicated the association between the NAT2 SNP (rs1799930... DisGeNET Detail
A stratified analysis by menopausal status indicated the association between the NAT2 SNP (rs1799930... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs162049 dbSNP
Genome
hg19
Position
chr5:7,893,121-7,893,121
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs162049
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4518
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7573
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser