chr5:71015451:C>T Detail (hg19) (CARTPT)

Information

Genome

Assembly Position
hg19 chr5:71,015,451-71,015,451
hg38 chr5:71,719,624-71,719,624 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004291.3:c.159+172C>T
Ensemble ENST00000296777.5:c.159+172C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.141
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 602606 OMIM
HGNC 24323 HGNC
Ensembl ENSG00000164326 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv21465953 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 Chronic schizophrenia Five CART single nucleotide polymorphisms (SNPs) (rs10515115, rs3763153, rs38573... BeFree 24564533 Detail
<0.001 Chronic schizophrenia Five CART single nucleotide polymorphisms (SNPs) (rs10515115, rs3763153, rs38573... BeFree 24564533 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004291.4(CARTPT):c.159+172C>T AND not provided ClinVar Detail
Five CART single nucleotide polymorphisms (SNPs) (rs10515115, rs3763153, rs3857384, rs11575893, rs16... DisGeNET Detail
Five CART single nucleotide polymorphisms (SNPs) (rs10515115, rs3763153, rs3857384, rs11575893, rs16... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11575893 dbSNP
Genome
hg19
Position
chr5:71,015,451-71,015,451
Variant Type
snv
Reference Allele
C
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))
rs11575893
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1408
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2360
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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