chr7:94937412:C>T Detail (hg19) (PON1)

Information

Genome

Assembly Position
hg19 chr7:94,937,412-94,937,412
hg38 chr7:95,308,100-95,308,100 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000446.5:c.609G>A NP_000437.3:p.Ser203=
Ensemble ENST00000222381.8:c.609G>A ENST00000222381.8:p.Ser203=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 168820 OMIM
HGNC 9204 HGNC
Ensembl ENSG00000005421 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2019-03-18 criteria provided, single submitter PON1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000446.7(PON1):c.609G>A (p.Ser203=) AND PON1-related disorder ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr7:94,937,412-94,937,412
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8650
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121366
Allele Counts in All Race (ExAC)
8
Heterozygous Counts in All Race (ExAC)
8
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
6.591631923273405E-5
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