chr19:55800329:T>C Detail (hg19) (BRSK1)

Information

Genome

Assembly Position
hg19 chr19:55,800,329-55,800,329
hg38 chr19:55,288,961-55,288,961 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_032430.1:c.318-519T>C
Ensemble ENST00000309383.6:c.318-519T>C
ENST00000585418.1:c.318-519T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.834
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 609235 OMIM
HGNC 18994 HGNC
Ensembl ENSG00000160469 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62705966 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 premature menopause To identify whether variants found in a large Han Chinese cohort - 8q22.3 SNPs r... BeFree 24103315 Detail
0.002 premature menopause To identify whether variants found in a large Han Chinese cohort - 8q22.3 SNPs r... BeFree 24103315 Detail
Annotation

Annotations

DescrptionSourceLinks
To identify whether variants found in a large Han Chinese cohort - 8q22.3 SNPs rs3847153 and rs31089... DisGeNET Detail
To identify whether variants found in a large Han Chinese cohort - 8q22.3 SNPs rs3847153 and rs31089... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12611091 dbSNP
Genome
hg19
Position
chr19:55,800,329-55,800,329
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))
rs12611091
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8337
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13973
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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