chr20:5935385:T>C Detail (hg19) (MCM8)

Information

Genome

Assembly Position
hg19 chr20:5,935,385-5,935,385
hg38 chr20:5,954,739-5,954,739 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001281522.1:c.336+49T>C
NM_001281521.1:c.336+49T>C
NM_001281520.1:c.336+49T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.999
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.999

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 608187 OMIM
HGNC 16147 HGNC
Ensembl ENSG00000125885 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv63005281 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
<0.001 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
<0.001 Malignant Childhood Neoplasm We determined serum AMH levels (a marker of ovarian reserve) in adult survivors ... BeFree 23360674 Detail
0.125 Menopause present (finding) [Loci at chromosomes 13, 19 and 20 influence age at natural menopause.] GAD 19448619 Detail
0.125 Menopause present (finding) Loci at chromosomes 13, 19 and 20 influence age at natural menopause. GWASCAT 19448619 Detail
Annotation

Annotations

DescrptionSourceLinks
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
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
[Loci at chromosomes 13, 19 and 20 influence age at natural menopause.] DisGeNET Detail
Loci at chromosomes 13, 19 and 20 influence age at natural menopause. DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs236114 dbSNP
Genome
hg19
Position
chr20:5,935,385-5,935,385
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))
rs236114
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9989
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16741
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8454
East Asian Allele Counts (ExAC)
8445
East Asian Heterozygous Counts (ExAC)
9
East Asian Homozygous Counts (ExAC)
4218
East Asian Allele Frequency (ExAC)
0.9989354151880766
Chromosome Counts in All Race (ExAC)
115778
Allele Counts in All Race (ExAC)
96671
Heterozygous Counts in All Race (ExAC)
15625
Homozygous Counts in All Race (ExAC)
40523
Allele Frequency in All Race (ExAC)
0.8349686468931922
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