chr8:105561395:C>T Detail (hg38) (ZFPM2)

Information

Genome

Assembly Position
hg19 chr8:106,573,623-106,573,623 View the variant detail on this assembly version.
hg38 chr8:105,561,395-105,561,395

HGVS

Type Transcript Protein
RefSeq NM_012082.3:c.334C>T NP_036214.2:p.Arg112Ter
Ensemble ENST00000407775.7:c.334C>T ENST00000407775.7:p.Arg112Ter
ENST00000517361.1:c.-63C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
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 COSM3395048 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2005-07-01 no assertion criteria provided Diaphragmatic hernia 3 germline Detail
Likely pathogenic 2021-08-02 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Diaphragmatic hernia 3 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_012082.4(ZFPM2):c.334C>T (p.Arg112Ter) AND Diaphragmatic hernia 3 ClinVar Detail
NM_012082.4(ZFPM2):c.334C>T (p.Arg112Ter) AND not provided ClinVar Detail
NA 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
rs121908602 dbSNP
Genome
hg38
Position
chr8:105,561,395-105,561,395
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser