chr1:207940046:G>T Detail (hg19) (CD46)

Information

Genome

Assembly Position
hg19 chr1:207,940,046-207,940,046
hg38 chr1:207,766,701-207,766,701 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002389.4:c.674-312G>T
NM_172361.2:c.674-312G>T
NM_153826.3:c.674-312G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.830
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 120920 OMIM
HGNC 6953 HGNC
Ensembl ENSG00000117335 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv4594928 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-11-10 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 lymphoma In line with a previous study, rs2466571 in CD46 (HR = 0.73, 95% CI 0.58-0.91, p... BeFree 25294155 Detail
0.004 lymphoma In line with a previous study, rs2466571 in CD46 (HR = 0.73, 95% CI 0.58-0.91, p... BeFree 25294155 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_172351.3(CD46):c.674-312G>T AND not provided ClinVar Detail
In line with a previous study, rs2466571 in CD46 (HR = 0.73, 95% CI 0.58-0.91, p = 0.006) showed nom... DisGeNET Detail
In line with a previous study, rs2466571 in CD46 (HR = 0.73, 95% CI 0.58-0.91, p = 0.006) showed nom... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2466571 dbSNP
Genome
hg19
Position
chr1:207,940,046-207,940,046
Variant Type
snv
Reference Allele
G
Alternative Allele
T
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))
rs2466571
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8301
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13913
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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