chr19:54939525:G>A Detail (hg38) (NLRP7)

Information

Genome

Assembly Position
hg19 chr19:55,450,893-55,450,893 View the variant detail on this assembly version.
hg38 chr19:54,939,525-54,939,525

HGVS

Type Transcript Protein
RefSeq NM_001127255.1:c.1294C>T NP_631915.2:p.Arg432Ter
NM_139176.3:c.1294C>T NP_631915.2:p.Arg432Ter
Ensemble ENST00000328092.9:c.1294C>T ENST00000328092.9:p.Arg432Ter
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 Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 609661 OMIM
HGNC 22947 HGNC
Ensembl ENSG00000167634 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM4081418 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2009-08-01 no assertion criteria provided Hydatidiform mole, recurrent, 1 germline not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Gestational trophoblastic disease NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001127255.2(NLRP7):c.1294C>T (p.Arg432Ter) AND Hydatidiform mole, recurrent, 1 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
rs104895530 dbSNP
Genome
hg38
Position
chr19:54,939,525-54,939,525
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8554
East Asian Allele Counts (ExAC)
4
East Asian Heterozygous Counts (ExAC)
4
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
4.6761748889408465E-4
Chromosome Counts in All Race (ExAC)
117962
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.3909225004662515E-5
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