chr11:66335308:T>C Detail (hg19) (CTSF)

Information

Genome

Assembly Position
hg19 chr11:66,335,308-66,335,308
hg38 chr11:66,567,837-66,567,837 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003793.3:c.312+147A>G
Ensemble ENST00000677005.1:c.312+147A>G
ENST00000310325.10:c.312+147A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.223
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 603539 OMIM
HGNC 2531 HGNC
Ensembl ENSG00000174080 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv42954051 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-06-28 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 bipolar disorder Genome-wide association and meta-analysis of bipolar disorder in individuals of ... GWASCAT 19416921 Detail
0.122 bipolar disorder [Genome-wide association and meta-analysis of bipolar disorder in individuals of... GAD 19416921 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003793.4(CTSF):c.312+147A>G AND not provided ClinVar Detail
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. DisGeNET Detail
[Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.] DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2242663 dbSNP
Genome
hg19
Position
chr11:66,335,308-66,335,308
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))
rs2242663
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2231
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3738
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16756
Genome browser