chr17:17420218:T>G Detail (hg19) (PEMT)

Information

Genome

Assembly Position
hg19 chr17:17,420,218-17,420,218
hg38 chr17:17,516,904-17,516,904 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001267552.1:c.321-4250A>C
NM_001267551.1:c.321-4250A>C
NM_148172.2:c.321-4250A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.474
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 602391 OMIM
HGNC 8830 HGNC
Ensembl ENSG00000133027 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv57239908 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 endometriosis However, the exhaustive multifactor dimensionality reduction analysis revealed a... BeFree 21429654 Detail
Annotation

Annotations

DescrptionSourceLinks
However, the exhaustive multifactor dimensionality reduction analysis revealed an epistatic interact... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4244593 dbSNP
Genome
hg19
Position
chr17:17,420,218-17,420,218
Variant Type
snv
Reference Allele
T
Alternative Allele
G
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))
rs4244593
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4736
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7938
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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