chr15:51507874:G>A Detail (hg19) (CYP19A1, PIRC66, MIR4713HG)

Information

Genome

Assembly Position
hg19 chr15:51,507,874-51,507,874
hg38 chr15:51,215,677-51,215,677 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_031226.2:c.858+26C>T
NM_000103.3:c.858+26C>T
Ensemble ENST00000396404.8:c.858+26C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.011
ToMMo:0.005
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.009

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 107910 OMIM
HGNC 2594 HGNC
Ensembl ENSG00000137869 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv52936990 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2015-03-03 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Impaired cognition We analyzed the role of 3 CYP19 single-nucleotide polymorphisms (rs12907866, rs1... BeFree 19478482 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000103.4(CYP19A1):c.858+26C>T AND not provided ClinVar Detail
We analyzed the role of 3 CYP19 single-nucleotide polymorphisms (rs12907866, rs17601241, rs4646) in ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs17601241 dbSNP
Genome
hg19
Position
chr15:51,507,874-51,507,874
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
537
Mean of sample read depth (HGVD)
210.24
Standard deviation of sample read depth (HGVD)
51.27
Number of reference allele (HGVD)
1062
Number of alternative allele (HGVD)
12
Allele Frequency (HGVD)
0.0111731843575419
Gene Symbol (HGVD)
CYP19A1
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))
rs17601241
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0052
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
87
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8612
East Asian Allele Counts (ExAC)
79
East Asian Heterozygous Counts (ExAC)
79
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.009173246632605667
Chromosome Counts in All Race (ExAC)
121232
Allele Counts in All Race (ExAC)
12484
Heterozygous Counts in All Race (ExAC)
10760
Homozygous Counts in All Race (ExAC)
862
Allele Frequency in All Race (ExAC)
0.10297611191764551
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