chr19:55819845:C>T Detail (hg19) (BRSK1)

Information

Genome

Assembly Position
hg19 chr19:55,819,845-55,819,845
hg38 chr19:55,308,477-55,308,477 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_032430.1:c.2090-162C>T
Ensemble ENST00000309383.6:c.2090-162C>T
ENST00000326848.7:c.1175-162C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.038
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 tgv62706939 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 Malignant Childhood Neoplasm We determined serum AMH levels (a marker of ovarian reserve) in adult survivors ... BeFree 23360674 Detail
0.122 Menopause present (finding) [Loci at chromosomes 13, 19 and 20 influence age at natural menopause.] GAD 19448619 Detail
<0.001 Malignant Childhood Neoplasm We determined serum AMH levels (a marker of ovarian reserve) in adult survivors ... BeFree 23360674 Detail
0.122 Menopause present (finding) Loci at chromosomes 13, 19 and 20 influence age at natural menopause. GWASCAT 19448619 Detail
<0.001 Malignant Childhood Neoplasm We determined serum AMH levels (a marker of ovarian reserve) in adult survivors ... BeFree 23360674 Detail
<0.001 Malignant Childhood Neoplasm We determined serum AMH levels (a marker of ovarian reserve) in adult survivors ... BeFree 23360674 Detail
<0.001 Malignant Childhood Neoplasm We determined serum AMH levels (a marker of ovarian reserve) in adult survivors ... BeFree 23360674 Detail
<0.001 Malignant Childhood Neoplasm We determined serum AMH levels (a marker of ovarian reserve) in adult survivors ... BeFree 23360674 Detail
<0.001 Malignant Childhood Neoplasm We determined serum AMH levels (a marker of ovarian reserve) in adult survivors ... BeFree 23360674 Detail
Annotation

Annotations

DescrptionSourceLinks
We determined serum AMH levels (a marker of ovarian reserve) in adult survivors of childhood cancer ... DisGeNET Detail
[Loci at chromosomes 13, 19 and 20 influence age at natural menopause.] DisGeNET Detail
We determined serum AMH levels (a marker of ovarian reserve) in adult survivors of childhood cancer ... DisGeNET Detail
Loci at chromosomes 13, 19 and 20 influence age at natural menopause. DisGeNET Detail
We determined serum AMH levels (a marker of ovarian reserve) in adult survivors of childhood cancer ... DisGeNET Detail
We determined serum AMH levels (a marker of ovarian reserve) in adult survivors of childhood cancer ... DisGeNET Detail
We determined serum AMH levels (a marker of ovarian reserve) in adult survivors of childhood cancer ... DisGeNET Detail
We determined serum AMH levels (a marker of ovarian reserve) in adult survivors of childhood cancer ... DisGeNET Detail
We determined serum AMH levels (a marker of ovarian reserve) in adult survivors of childhood cancer ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1172822 dbSNP
Genome
hg19
Position
chr19:55,819,845-55,819,845
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))
rs1172822
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0385
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
645
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser