chr8:106431420:A>G Detail (hg19) (ZFPM2)

Information

Genome

Assembly Position
hg19 chr8:106,431,420-106,431,420
hg38 chr8:105,419,192-105,419,192 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_012082.3:c.89A>G NP_036214.2:p.Glu30Gly
Ensemble ENST00000407775.7:c.89A>G ENST00000407775.7:p.Glu30Gly
ENST00000520492.5:c.-308A>G
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 Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 603693 OMIM
HGNC 16700 HGNC
Ensembl ENSG00000169946 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
Pathogenic 2015-04-01 no assertion criteria provided tetralogy of Fallot germline Detail
Pathogenic 2015-04-01 no assertion criteria provided double outlet right ventricle germline Detail
Pathogenic 2015-04-01 no assertion criteria provided Diaphragmatic hernia 3 germline Detail
Likely benign 2024-01-21 criteria provided, single submitter 46,XY sex reversal 9 germline Detail
Benign 2019-08-26 no assertion criteria provided 46,XY sex reversal 3 germline Detail
Benign 2023-08-01 criteria provided, single submitter not provided germline Detail
Likely benign 2017-08-08 criteria provided, single submitter not specified germline Detail
Likely benign 2021-08-16 criteria provided, single submitter ZFPM2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Diaphragmatic hernia 3 NA CLINVAR Detail
0.120 CONOTRUNCAL HEART MALFORMATIONS (disorder) Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. UNIPROT 14517948 Detail
0.121 double outlet right ventricle NA CLINVAR Detail
0.562 tetralogy of Fallot NA CLINVAR Detail
0.562 tetralogy of Fallot Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. UNIPROT 14517948 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) AND Tetralogy of Fallot ClinVar Detail
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) AND Double outlet right ventricle ClinVar Detail
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) AND Diaphragmatic hernia 3 ClinVar Detail
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) AND 46,XY sex reversal 9 ClinVar Detail
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) AND 46,XY sex reversal 3 ClinVar Detail
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) AND not provided ClinVar Detail
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) AND not specified ClinVar Detail
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) AND ZFPM2-related disorder ClinVar Detail
NA DisGeNET Detail
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. DisGeNET 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
-
dbSNP
rs121908601 dbSNP
Genome
hg19
Position
chr8:106,431,420-106,431,420
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8582
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)
120392
Allele Counts in All Race (ExAC)
326
Heterozygous Counts in All Race (ExAC)
326
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.002707821117682238
Genome browser