chr7:142458430:A>G Detail (hg19) (PRSS1)

Information

Genome

Assembly Position
hg19 chr7:142,458,430-142,458,430
hg38 chr7:142,750,579-142,750,579 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000311737.12:c.65A>G ENST00000311737.12:p.Asp22Gly
ENST00000486171.5:c.65A>G ENST00000486171.5:p.Asp22Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.414 pancreatitis Five mutations (R122H, N29I, A16V, D22G and K23R) in cationic trypsinogen and tw... BeFree 17148697 Detail
Annotation

Annotations

DescrptionSourceLinks
Five mutations (R122H, N29I, A16V, D22G and K23R) in cationic trypsinogen and two mutations (N34S an... 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
rs397507442 dbSNP
Genome
hg19
Position
chr7:142,458,430-142,458,430
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser