chr7:82450035:A>C Detail (hg19) (PCLO)

Information

Genome

Assembly Position
hg19 chr7:82,450,035-82,450,035
hg38 chr7:82,820,719-82,820,719 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_033026.5:c.14791+1776T>G
NM_014510.2:c.*1759T>G
Ensemble ENST00000333891.14:c.14791+1776T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.882
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 604918 OMIM
HGNC 13406 HGNC
Ensembl ENSG00000186472 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv29908273 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
0.130 major depressive disorder NA GAD Detail
0.130 major depressive disorder [These results provide genetic basis for gender differences in MDD and will serv... GAD 21621269 Detail
0.130 major depressive disorder Genome-wide association analysis of gender differences in major depressive disor... GWASCAT 21621269 Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
[These results provide genetic basis for gender differences in MDD and will serve as a resource for ... DisGeNET Detail
Genome-wide association analysis of gender differences in major depressive disorder in the Netherlan... 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
rs2715148 dbSNP
Genome
hg19
Position
chr7:82,450,035-82,450,035
Variant Type
snv
Reference Allele
A
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))
rs2715148
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8817
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14775
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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