chr1:15868692:A>G Detail (hg19) (DNAJC16)

Information

Genome

Assembly Position
hg19 chr1:15,868,692-15,868,692
hg38 chr1:15,542,197-15,542,197 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_015291.3:c.575-2202A>G
NM_001287811.1:c.-362-2202A>G
Ensemble ENST00000375847.8:c.575-2202A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.565
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 619973 OMIM
HGNC 29157 HGNC
Ensembl ENSG00000116138 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv483324 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 5,10-Methylenetetrahydrofolate reductase deficiency With the aim to conclusively validate the strongest associations so far reported... BeFree 24521996 Detail
<0.001 5,10-Methylenetetrahydrofolate reductase deficiency With the aim to conclusively validate the strongest associations so far reported... BeFree 24521996 Detail
<0.001 5,10-Methylenetetrahydrofolate reductase deficiency With the aim to conclusively validate the strongest associations so far reported... BeFree 24521996 Detail
Annotation

Annotations

DescrptionSourceLinks
With the aim to conclusively validate the strongest associations so far reported, we selected the po... DisGeNET Detail
With the aim to conclusively validate the strongest associations so far reported, we selected the po... DisGeNET Detail
With the aim to conclusively validate the strongest associations so far reported, we selected the po... 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
rs7516435 dbSNP
Genome
hg19
Position
chr1:15,868,692-15,868,692
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs7516435
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5652
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9472
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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