chr7:142751934:G>A Detail (hg38) (PRSS1, TRB)

Information

Genome

Assembly Position
hg19 chr7:142,459,785-142,459,785 View the variant detail on this assembly version.
hg38 chr7:142,751,934-142,751,934

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000311737.12:c.361G>A ENST00000311737.12:p.Ala121Thr
ENST00000486171.5:c.403G>A ENST00000486171.5:p.Ala135Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 276000 OMIM
HGNC 9475 HGNC
Ensembl ENSG00000204983 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv31280329 TogoVar
COSMIC COSM6108800 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2024-01-06 criteria provided, multiple submitters, no conflicts Hereditary pancreatitis germline Detail
Uncertain significance 2020-02-10 criteria provided, single submitter not provided germline Detail
Uncertain significance 2023-05-01 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.268 Hereditary pancreatitis A novel A121T mutation in human cationic trypsinogen associated with hereditary ... BeFree 18511571 Detail
0.414 pancreatitis This problematic trend is notably illustrated by two recent studies that classif... BeFree 20452997 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002769.5(PRSS1):c.361G>A (p.Ala121Thr) AND Hereditary pancreatitis ClinVar Detail
NM_002769.5(PRSS1):c.361G>A (p.Ala121Thr) AND not provided ClinVar Detail
NM_002769.5(PRSS1):c.361G>A (p.Ala121Thr) AND not specified ClinVar Detail
A novel A121T mutation in human cationic trypsinogen associated with hereditary pancreatitis: functi... DisGeNET Detail
This problematic trend is notably illustrated by two recent studies that classified the p.A121T PRSS... 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
rs199422123 dbSNP
Genome
hg38
Position
chr7:142,751,934-142,751,934
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs199422123
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8642
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1571395510298542E-4
Chromosome Counts in All Race (ExAC)
121182
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.126025317291347E-5
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